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Previous release (v1)
2024-04-27 21:33:20, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001321217 1034 bp mRNA linear PRI 16-NOV-2023
DEFINITION Homo sapiens B9 domain containing 1 (B9D1), transcript variant 7,
mRNA.
ACCESSION NM_001321217 XM_005256605
VERSION NM_001321217.2
KEYWORDS RefSeq.
SOURCE Homo sapiens (human)
ORGANISM Homo sapiens
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
REFERENCE 1 (bases 1 to 1034)
AUTHORS Okazaki M, Kobayashi T, Chiba S, Takei R, Liang L, Nakayama K and
Katoh Y.
TITLE Formation of the B9-domain protein complex MKS1-B9D2-B9D1 is
essential as a diffusion barrier for ciliary membrane proteins
JOURNAL Mol Biol Cell 31 (20), 2259-2268 (2020)
PUBMED 32726168
REMARK GeneRIF: Formation of the B9-domain protein complex MKS1-B9D2-B9D1
is essential as a diffusion barrier for ciliary membrane proteins.
REFERENCE 2 (bases 1 to 1034)
AUTHORS Boldt K, van Reeuwijk J, Lu Q, Koutroumpas K, Nguyen TM, Texier Y,
van Beersum SE, Horn N, Willer JR, Mans DA, Dougherty G, Lamers IJ,
Coene KL, Arts HH, Betts MJ, Beyer T, Bolat E, Gloeckner CJ,
Haidari K, Hetterschijt L, Iaconis D, Jenkins D, Klose F, Knapp B,
Latour B, Letteboer SJ, Marcelis CL, Mitic D, Morleo M, Oud MM,
Riemersma M, Rix S, Terhal PA, Toedt G, van Dam TJ, de Vrieze E,
Wissinger Y, Wu KM, Apic G, Beales PL, Blacque OE, Gibson TJ,
Huynen MA, Katsanis N, Kremer H, Omran H, van Wijk E, Wolfrum U,
Kepes F, Davis EE, Franco B, Giles RH, Ueffing M, Russell RB and
Roepman R.
CONSRTM UK10K Rare Diseases Group
TITLE An organelle-specific protein landscape identifies novel diseases
and molecular mechanisms
JOURNAL Nat Commun 7, 11491 (2016)
PUBMED 27173435
REMARK Publication Status: Online-Only
REFERENCE 3 (bases 1 to 1034)
AUTHORS Gupta GD, Coyaud E, Goncalves J, Mojarad BA, Liu Y, Wu Q,
Gheiratmand L, Comartin D, Tkach JM, Cheung SW, Bashkurov M,
Hasegan M, Knight JD, Lin ZY, Schueler M, Hildebrandt F, Moffat J,
Gingras AC, Raught B and Pelletier L.
TITLE A Dynamic Protein Interaction Landscape of the Human
Centrosome-Cilium Interface
JOURNAL Cell 163 (6), 1484-1499 (2015)
PUBMED 26638075
REFERENCE 4 (bases 1 to 1034)
AUTHORS Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L,
Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA,
Darra F, Mate A, Zimmermann A, Gouider-Khouja N and Valente EM.
TITLE Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding
the genetic overlap with the lethal ciliopathy Meckel syndrome
JOURNAL Orphanet J Rare Dis 9, 72 (2014)
PUBMED 24886560
REMARK GeneRIF: describe four patients with mild Joubert phenotypes who
carry pathogenic mutations in either MKS1 or B9D1, two genes
previously implicated only in Meckel syndrome
Publication Status: Online-Only
REFERENCE 5 (bases 1 to 1034)
AUTHORS Hopp K, Heyer CM, Hommerding CJ, Henke SA, Sundsbak JL, Patel S,
Patel P, Consugar MB, Czarnecki PG, Gliem TJ, Torres VE, Rossetti S
and Harris PC.
TITLE B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted
exon-enriched next-generation sequencing and deletion analysis
JOURNAL Hum Mol Genet 20 (13), 2524-2534 (2011)
PUBMED 21493627
REMARK GeneRIF: B9D1 is a novel Meckel syndrome gene
REFERENCE 6 (bases 1 to 1034)
AUTHORS Bialas NJ, Inglis PN, Li C, Robinson JF, Parker JD, Healey MP,
Davis EE, Inglis CD, Toivonen T, Cottell DC, Blacque OE, Quarmby
LM, Katsanis N and Leroux MR.
TITLE Functional interactions between the ciliopathy-associated Meckel
syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR)
proteins
JOURNAL J Cell Sci 122 (Pt 5), 611-624 (2009)
PUBMED 19208769
REMARK GeneRIF: MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1/EPPB9,
MKSR-2/B9D2), localize to transition zones/basal bodies of sensory
cilia; subcellular localization is largely co-dependent, pointing
to a functional relationship between the proteins
REFERENCE 7 (bases 1 to 1034)
AUTHORS Williams CL, Winkelbauer ME, Schafer JC, Michaud EJ and Yoder BK.
TITLE Functional redundancy of the B9 proteins and nephrocystins in
Caenorhabditis elegans ciliogenesis
JOURNAL Mol Biol Cell 19 (5), 2154-2168 (2008)
PUBMED 18337471
REMARK GeneRIF: Ciliary transition zone localization. Functions in a
module with related proteins (MKS1 and B9D1) that cooperates with
nephrocystins in ciliogenesis.
REFERENCE 8 (bases 1 to 1034)
AUTHORS Lehner B and Sanderson CM.
TITLE A protein interaction framework for human mRNA degradation
JOURNAL Genome Res 14 (7), 1315-1323 (2004)
PUBMED 15231747
REFERENCE 9 (bases 1 to 1034)
AUTHORS Gunay-Aygun,M., Gahl,W.A. and Heller,T.
TITLE Congenital Hepatic Fibrosis Overview horizontal line RETIRED
CHAPTER, FOR HISTORICAL REFERENCE ONLY
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301743
REFERENCE 10 (bases 1 to 1034)
AUTHORS Parisi,M. and Glass,I.
TITLE Joubert Syndrome
JOURNAL (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH,
Gripp KW and Amemiya A (Eds.);
GENEREVIEWS(R);
(1993)
PUBMED 20301500
COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The
reference sequence was derived from HY047032.1 and AC124066.6.
On May 31, 2019 this sequence version replaced NM_001321217.1.
Summary: This gene encodes a B9 domain-containing protein, one of
several that are involved in ciliogenesis. Alterations in
expression of this gene have been found in a family with Meckel
syndrome. Meckel syndrome has been associated with at least six
different genes. This gene is located within the Smith-Magenis
syndrome region on chromosome 17. [provided by RefSeq, Mar 2016].
Sequence Note: This RefSeq record was created from transcript and
genomic sequence data to make the sequence consistent with the
reference genome assembly. The genomic coordinates used for the
transcript record were based on transcript alignments.
##Evidence-Data-START##
Transcript exon combination :: SRR3476690.314151.1,
SRR7410570.630746.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-97 HY047032.1 16-112
98-217 AC124066.6 34155-34274
218-286 AC124066.6 36393-36461
287-398 AC124066.6 38830-38941
399-495 AC124066.6 48901-48997
496-558 AC124066.6 49450-49512
559-626 AC124066.6 52924-52991
627-1034 AC124066.6 55455-55862
FEATURES Location/Qualifiers
source 1..1034
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="17"
/map="17p11.2"
gene 1..1034
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/note="B9 domain containing 1"
/db_xref="GeneID:27077"
/db_xref="HGNC:HGNC:24123"
/db_xref="MIM:614144"
exon 1..217
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/inference="alignment:Splign:2.1.0"
variation 2
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1290681499"
variation 3
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:755124247"
variation 4..5
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="tg"
/db_xref="dbSNP:1366860483"
variation 5
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1379816026"
variation 6
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1567907410"
variation 8
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1911304832"
variation 9
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1270391630"
variation 10
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:754000567"
variation 11
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:537793101"
variation 12
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:913378878"
variation 13
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1406028099"
variation 14
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1365378257"
variation 16
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1162004200"
variation 17
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:750393249"
variation 18
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:755870626"
variation 19
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1167549912"
variation 20
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:761761167"
variation 21
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:113754722"
variation 22
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1567907298"
variation 23
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1052070605"
variation 24
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1200914800"
variation 25
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:568876441"
variation 26
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1911297725"
variation 30
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1911297325"
variation 32
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:906264724"
variation 34
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1267950762"
variation 37
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1220043104"
variation 38
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1231258305"
variation 41
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1344002534"
variation 42
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:957409471"
variation 45
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:117169107"
variation 46
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1911293893"
variation 47
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:199908550"
variation 48
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:775156834"
variation 50
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1193149152"
variation 51
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1276066155"
variation 52
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1425014142"
variation 53
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1406116798"
variation 55..58
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="gt"
/replace="gtgt"
/db_xref="dbSNP:1911288086"
variation 55
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:948245926"
variation 56
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1321691657"
variation 57
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1301802167"
variation 58
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1412136257"
variation 59
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1355462902"
variation 63
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:767715187"
variation 65
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:745309244"
variation 67
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:778266252"
variation 70
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1382944467"
variation 71
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1029354359"
variation 72..73
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="cc"
/db_xref="dbSNP:1567907075"
variation 73
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1598094338"
variation 74
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:748661746"
variation 76
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:529182605"
variation 78
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:748587016"
variation 82
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1197188241"
variation 84
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:779125341"
variation 85..87
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="gg"
/replace="ggg"
/db_xref="dbSNP:1203379368"
variation 85
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2296978"
variation 89
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1435665212"
variation 90
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1280268933"
variation 91
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1911279955"
variation 94
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1318841624"
variation 95
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:749504872"
variation 97
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1322210666"
variation 98
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1911278348"
variation 99
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:901685995"
variation 101
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1292450482"
variation 102
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1335063970"
variation 103
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:546446461"
variation 104
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:780359127"
variation 106
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:907869527"
variation 107
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1911275527"
variation 111
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:144159985"
variation 112
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:756278915"
variation 113
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:750522077"
variation 115
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:376886365"
variation 116
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:757225032"
variation 117
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:751416942"
variation 119
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:763815062"
variation 120..121
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="cc"
/db_xref="dbSNP:1911271762"
variation 120
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:564378799"
variation 121
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1264457782"
misc_feature 122..124
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/note="upstream in-frame stop codon"
variation 123
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:775008149"
variation 126
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1420733330"
variation 127
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1004590671"
variation 128
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1176454723"
variation 129
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:887565728"
variation 130
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1598093986"
variation 130
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="t"
/replace="tt"
/db_xref="dbSNP:773701083"
variation 131..136
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="ccccc"
/replace="cccccc"
/replace="ccccccc"
/db_xref="dbSNP:1260627334"
variation 131
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:374581463"
variation 132
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:776088920"
variation 134
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1911267997"
variation 135
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:772617090"
variation 136
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1460493207"
variation 137..138
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="gg"
/db_xref="dbSNP:770522138"
variation 139
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:748626836"
variation 140
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1911265356"
variation 141
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:774883190"
variation 142
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:964256392"
variation 143
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1306892577"
variation 144
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1222467442"
variation 146
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1381795986"
variation 148
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:768909041"
variation 149
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1452118791"
variation 150
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1164273039"
variation 152
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1380682779"
variation 154
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1322593758"
CDS 155..715
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/note="isoform g is encoded by transcript variant 7;
endothelial precursor protein B9; B9 domain-containing
protein 1; MKS1-related protein 1; B9 protein domain 1"
/codon_start=1
/product="B9 domain-containing protein 1 isoform g"
/protein_id="NP_001308146.1"
/db_xref="CCDS:CCDS82086.1"
/db_xref="GeneID:27077"
/db_xref="HGNC:HGNC:24123"
/db_xref="MIM:614144"
/translation="
MATASPSVFLLMVNGQVESAQFPEYDDLYCKYCFVYGQDWAPTAGLEEGISQITSKSQDVRQALVWNFPIDVTFKSTNPYGWPQIVLSVYGPDVFGNDVVRGYGAVHVPFSPGRHKRTIPMFVPESTSKLQKFTSWFMGRRPEYTDPKVVAQGEGREAITAPRKAVFSVHGLTSPRALALVHIKGT"
misc_feature 185..625
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/note="Ciliary basal body-associated, B9 protein; Region:
B9-C2; pfam07162"
/db_xref="CDD:429326"
variation 155
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1911261227"
variation 158
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1355899264"
variation 159
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1911260065"
variation 160
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1454354934"
variation 163
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:749611797"
variation 165
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:148563865"
variation 166
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:756405528"
variation 173
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1598093735"
variation 174
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1911256730"
variation 176
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:745981234"
variation 178
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1911255776"
variation 180
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1184352870"
variation 181
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1183823019"
variation 182
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1046425051"
variation 183
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1443586766"
variation 184
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:781395275"
variation 185
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1911252975"
variation 187
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:751480715"
variation 189
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1246686474"
variation 191
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1485893157"
variation 195
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:764022966"
variation 196
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1214262688"
variation 198
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1362060821"
variation 201
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1292879005"
variation 202
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2152278809"
variation 203
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:758139304"
variation 208
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1357620562"
variation 209
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1280021718"
variation 210
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:752474351"
variation 211
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1382912462"
variation 212
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1361342982"
variation 215
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1191082234"
exon 218..286
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/inference="alignment:Splign:2.1.0"
variation 220
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1405936788"
variation 221
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:766799080"
variation 222
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:763490372"
variation 223
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="a"
/db_xref="dbSNP:748231451"
variation 223
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:776088339"
variation 224
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:770310163"
variation 228..234
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="atga"
/replace="atgatga"
/db_xref="dbSNP:1391636047"
variation 228
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:943728198"
variation 229
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1910891387"
variation 231
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:759910675"
variation 234
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1598088382"
variation 236
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:777003828"
variation 238
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1910889048"
variation 240
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1395388731"
variation 241
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1910888105"
variation 243
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1017476309"
variation 244
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:886052685"
variation 245..246
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="aa"
/replace="aaa"
/db_xref="dbSNP:1278366976"
variation 248
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1470703479"
variation 249
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:771170000"
variation 250
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2152276201"
variation 251
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:556542491"
variation 252
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1910884676"
variation 253
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1910884202"
variation 254..260
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="t"
/replace="tttgtgt"
/db_xref="dbSNP:769728035"
variation 254
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1910883763"
variation 256
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:567921703"
variation 257
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2152276184"
variation 259
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:912206756"
variation 262
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:548122561"
variation 263
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:771997194"
variation 267
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1248771637"
variation 276
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2152276157"
variation 277
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:748115422"
variation 278
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2152276151"
variation 280
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1910880009"
variation 282
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:778756975"
variation 285
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149845104"
variation 286
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1356232164"
exon 287..398
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/inference="alignment:Splign:2.1.0"
variation 289
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1205587380"
variation 295
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1483550746"
variation 297
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:773267624"
variation 302
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1910567390"
variation 304
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:140021622"
variation 305
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:546359789"
variation 307
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1490262650"
variation 312
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1910565512"
variation 315
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:774333027"
variation 319
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:368753881"
variation 321
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2152273909"
variation 324
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1910564021"
variation 326
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1313878249"
variation 335
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:73980038"
variation 336
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:868006869"
variation 338
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1319576405"
variation 339
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1910561436"
variation 343
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:779880608"
variation 345
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:755812806"
variation 348
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:952400237"
variation 352
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:376644690"
variation 358
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1006221533"
variation 361
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1598083208"
variation 362
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:780639433"
variation 363
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:886039811"
variation 365
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2152273853"
variation 369
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1476439277"
variation 370
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:142357986"
variation 377
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:751099090"
variation 380
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2152273843"
variation 387
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1364533835"
variation 388
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:2152273834"
variation 389
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:765910751"
variation 390
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:919713893"
variation 391
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:149051059"
variation 394
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:754203497"
variation 395
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:766798349"
exon 399..495
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/inference="alignment:Splign:2.1.0"
variation 401
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1567889087"
variation 402
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1157707688"
variation 407
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:769608300"
variation 409
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:759444627"
variation 410
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:776537604"
variation 412
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:770757538"
variation 414
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1909060560"
variation 415
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1287922833"
variation 418
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:146218883"
variation 419
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:777500443"
variation 421
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:141244130"
variation 423
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:747596672"
variation 425
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1238280587"
variation 427
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2152262040"
variation 430
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:996417216"
variation 433
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:780676505"
variation 435
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1315959511"
variation 439
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:373478202"
variation 440
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:751788862"
variation 442
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1405231172"
variation 443..444
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="aa"
/db_xref="dbSNP:758461043"
variation 443
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1040604454"
variation 445
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:997980384"
variation 446
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:764245755"
variation 447
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1909049731"
variation 448
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1567888761"
variation 449
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1470992949"
variation 450
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:763153642"
variation 452
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1598058203"
variation 455
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:752718131"
variation 456
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:148240978"
variation 457
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1555607998"
variation 460
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1417597543"
variation 461
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1909042680"
variation 462
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1414382257"
variation 464..467
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="gggg"
/replace="ggggg"
/db_xref="dbSNP:35236507"
variation 466
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2152261896"
variation 467
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:759369800"
variation 469
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:776662206"
variation 470
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:770853834"
variation 475
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:377672945"
variation 476
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:773056053"
variation 477..479
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="tgc"
/db_xref="dbSNP:1348920623"
variation 479
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1377833011"
variation 481
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1486453111"
variation 482
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1909036672"
variation 486..489
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="cacc"
/db_xref="dbSNP:750471365"
variation 487
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:771617247"
variation 492
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:2152261827"
variation 494
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:747731978"
variation 495
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:778260923"
exon 496..558
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/inference="alignment:Splign:2.1.0"
variation 497
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:768052317"
variation 498
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:748742792"
variation 500
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:777184376"
variation 501
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1430578855"
variation 504
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1598056578"
variation 505
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1908962189"
variation 506
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:997237718"
variation 507
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1908961639"
variation 508
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:999199095"
variation 511..514
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="cccc"
/replace="ccccc"
/db_xref="dbSNP:34066031"
variation 511
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:771426647"
variation 514
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:139682891"
variation 515
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1908958920"
variation 516
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1177935761"
variation 517
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="g"
/db_xref="dbSNP:2152260891"
variation 517
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1457371367"
variation 519
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1256190995"
variation 523
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:138240520"
variation 526
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:2152260865"
variation 527
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:778077243"
variation 530
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:201299216"
variation 533
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:748349063"
variation 534
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:779138882"
variation 535
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:755165652"
variation 537
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1472421570"
variation 539
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:753961996"
variation 544
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:766456851"
variation 545
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1462645325"
variation 546..550
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="ag"
/replace="agaag"
/db_xref="dbSNP:1908949792"
variation 546
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1159882758"
variation 547
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="g"
/db_xref="dbSNP:1375560294"
variation 547
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1908950651"
variation 551
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:201901019"
exon 559..626
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/inference="alignment:Splign:2.1.0"
variation 562
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1360851757"
variation 563
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1297229840"
variation 566
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1908323942"
variation 567
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:936774248"
variation 569
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1366554009"
variation 570..578
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="ggcggc"
/replace="ggcggcggc"
/db_xref="dbSNP:1197262081"
variation 572
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1417423091"
variation 573
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:375256419"
variation 575
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:752121172"
variation 576
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:764681399"
variation 577
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:763481692"
variation 578
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1196401724"
variation 580
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:775970042"
variation 581
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1490515097"
variation 583
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="g"
/db_xref="dbSNP:774007316"
variation 585
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1908317419"
variation 586
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1191806349"
variation 588
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:765607415"
variation 590
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:759829351"
variation 592
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1221013952"
variation 593
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:776679506"
variation 594
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:771049549"
variation 595
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:747003807"
variation 597
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1340916417"
variation 598..605
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="ggtgg"
/replace="ggtggtgg"
/db_xref="dbSNP:1064796686"
variation 598
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:773192535"
variation 600
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1598047042"
variation 602
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1397875662"
variation 603
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1598047028"
variation 606
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:771966098"
variation 607
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:747986383"
variation 609
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1456979116"
variation 610
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:910625035"
variation 611
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:372249324"
variation 613
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1598046964"
variation 614
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1908307291"
variation 619
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:748971385"
variation 620
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:369488112"
variation 621
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:886038205"
variation 622
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1908305840"
variation 623
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:146272049"
variation 624
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1169808869"
variation 625
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:749945608"
exon 627..1034
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/inference="alignment:Splign:2.1.0"
variation 630
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1825700620"
variation 632
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:547707153"
variation 638..641
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="ccc"
/replace="cccc"
/db_xref="dbSNP:1907936744"
variation 639
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:895286902"
variation 641
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1233525293"
variation 642
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:527634260"
variation 646
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1907935919"
variation 648
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1323018661"
variation 649
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1460419360"
variation 655..657
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="ctc"
/db_xref="dbSNP:1907935410"
variation 657
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907933952"
variation 658
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:2152249410"
variation 665
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907933675"
variation 673
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1907933423"
variation 674
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1166135050"
variation 682
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1247605624"
variation 684
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:190584073"
variation 686
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:888024044"
variation 687
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="t"
/replace="tt"
/db_xref="dbSNP:1907932134"
variation 689
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1209816889"
variation 690
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1057109523"
variation 693
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907931293"
variation 704
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1328945181"
variation 706
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1048232773"
variation 709
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:373984955"
variation 710
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1567878931"
variation 711
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:577883282"
variation 713
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907929548"
variation 719
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1181530755"
variation 728
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1907929090"
variation 729
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1598040986"
variation 732
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1907928851"
variation 733
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1907928386"
variation 733
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="t"
/replace="tt"
/db_xref="dbSNP:1598040979"
variation 735
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:924644733"
variation 742
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907927836"
variation 743
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907927564"
variation 744
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:978766196"
variation 745
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1598040954"
variation 747
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907926929"
variation 748
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1598040943"
variation 749
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1374793848"
variation 750
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907926128"
variation 758
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:143874930"
variation 764
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1170828493"
variation 766
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907925483"
variation 771
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1040431351"
variation 772
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:796552243"
variation 776
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907924293"
variation 785
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:943872466"
variation 789
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:911082624"
variation 790
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1161019701"
variation 791
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1907923184"
variation 798
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1325781824"
variation 799
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907922446"
variation 800
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:985277315"
variation 801..802
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="aa"
/db_xref="dbSNP:1907921725"
variation 803
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:185675714"
variation 806
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:373209178"
variation 807
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:915138296"
variation 814
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1907920667"
variation 816
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907920416"
variation 817
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1299249112"
variation 821
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:531794170"
variation 832
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:964508708"
variation 835
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:192707942"
variation 836..840
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="tttt"
/replace="ttttt"
/db_xref="dbSNP:1567878823"
variation 841
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1907919043"
variation 843
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907918791"
variation 846
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:542565287"
variation 847
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1808964620"
variation 851
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907918289"
variation 852
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1209653612"
variation 855
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:991898188"
variation 857
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:558015572"
variation 867
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907917528"
variation 875
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1200575362"
variation 877
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1598040787"
variation 878
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:950480389"
variation 879
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1472852869"
variation 884
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907915398"
variation 885
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1184284336"
variation 888
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:2152249176"
variation 891
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="g"
/db_xref="dbSNP:146622731"
variation 892
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1006343472"
variation 895..902
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="aca"
/replace="acaccaca"
/db_xref="dbSNP:1430825797"
variation 895
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:888035373"
variation 896..912
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="caccac"
/replace="caccacatacccaccac"
/db_xref="dbSNP:1907911795"
variation 896
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:1360600426"
variation 903
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:529258023"
variation 905
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:994483238"
variation 906
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="cacaccac"
/db_xref="dbSNP:1907912291"
variation 906
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:149470794"
variation 910
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1300953455"
variation 915
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907911586"
variation 920..931
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="ttacca"
/replace="ttaccattacca"
/db_xref="dbSNP:901819775"
variation 920
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1044585124"
variation 925
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1907911140"
variation 931
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907910920"
variation 936
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1907910693"
variation 937
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1365923901"
variation 939
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1040760987"
variation 943
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1210173038"
variation 944
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1013046370"
variation 948
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1276785076"
variation 949
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1907908999"
variation 950
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:534918277"
variation 952
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057225480"
variation 958
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907908186"
variation 960
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:774720565"
variation 962
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="a"
/db_xref="dbSNP:1244982911"
variation 962
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1598040619"
variation 964
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1477569111"
variation 967
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:934764453"
variation 968
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:768817440"
variation 973
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:924691706"
variation 982
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907906466"
variation 993
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1427017396"
variation 995
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1043470041"
variation 997
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1326118376"
variation 998..1002
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="ttttt"
/replace="tttttttt"
/db_xref="dbSNP:1167598409"
variation 1004
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="t"
/db_xref="dbSNP:1370614042"
variation 1014..1020
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="aaataaa"
/replace="aaataaataaa"
/db_xref="dbSNP:1907904539"
variation 1014
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/db_xref="dbSNP:1907905490"
regulatory 1015..1020
/regulatory_class="polyA_signal_sequence"
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/note="hexamer: AATAAA"
variation 1015..1019
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="aataa"
/replace="aataataa"
/db_xref="dbSNP:1907904783"
variation 1016
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1907905257"
variation 1018
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="t"
/db_xref="dbSNP:1907905025"
variation 1020
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="g"
/db_xref="dbSNP:1431147524"
variation 1022
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace=""
/replace="t"
/db_xref="dbSNP:1907904051"
variation 1023
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:137898681"
variation 1030
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="c"
/replace="g"
/db_xref="dbSNP:936449758"
variation 1032
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/replace="g"
/replace="t"
/db_xref="dbSNP:1907903237"
polyA_site 1034
/gene="B9D1"
/gene_synonym="B9; EPPB9; JBTS27; MKS9; MKSR-1; MKSR1"
/note="major polyA site"
ORIGIN
gcatgccacacgcgcactcgcgtggccttcgcgaaggtgtcgctgccaagaaacgtgtcctgcgcgctacgccgtctgtttctagggcaacgccggcgtctcttagcaaccgcgcgcggcctaggtgggtccccccggcacccccagacctgccatggcgaccgcgagtcctagcgtctttctactcatggtcaacgggcaggtggagagcgcccagtttccagagtatgatgacctctactgcaagtactgctttgtgtacggccaggactgggcccccacagcgggtctggaggaggggatctcacagatcacatccaagagccaagatgtgcggcaagcactggtgtggaacttccccattgatgtcacctttaaaagcaccaacccctacggctggccacagatcgtgctcagcgtgtatggaccagatgtgttcgggaacgatgtggttcgaggctatggggccgtgcacgtgcccttctcacctggccggcacaaaaggaccatccccatgtttgtcccagaatctacgtctaaactgcagaagtttacaagctggttcatggggcggcggcccgagtacacagaccccaaggtggtggctcagggtgaaggccgggaagctatcacagctccccggaaagctgtcttctctgtccatggcctcacctcacccagggcactggccttggtccacatcaaggggacctgaagcttccctgaagcctctagcctgtggtgtgcacgtacaagcctcaggccccatttgtccagcctgtcagcagctgggaaatactaagtcaccctcttctggttatgtttaattttccaatttttctcaacattactgaaatgtctaaatgtggaaaagttgacatcattttacagtgaacaccacatacccaccacctagattttaccattaccaatttcctgttccgtacttgtatattcacatatatccaactattcatccctgcttcaatccatcctatttttattgcatttcaaaataaactgtgaaatcagga
//
by
@meso_cacase at
DBCLS
This page is licensed under a
Creative Commons Attribution 4.0 International License (CC BY 4.0).
If you use GGRNA in your work, please cite:
Naito Y, Bono H. (2012)
GGRNA: an ultrafast, transcript-oriented search engine for genes and transcripts.
Nucleic Acids Res., 40, W592-W596.
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