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Previous release (v1)
2024-04-19 01:09:00, GGRNA.v2 : RefSeq release 222 (Jan, 2024)
LOCUS NM_001284368 667 bp mRNA linear PRI 23-DEC-2022
DEFINITION Homo sapiens NADH:ubiquinone oxidoreductase subunit B8 (NDUFB8),
transcript variant 3, mRNA; nuclear gene for mitochondrial product.
ACCESSION NM_001284368 XM_005269856
VERSION NM_001284368.1
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 667)
AUTHORS Signes A and Fernandez-Vizarra E.
TITLE Assembly of mammalian oxidative phosphorylation complexes I-V and
supercomplexes
JOURNAL Essays Biochem 62 (3), 255-270 (2018)
PUBMED 30030361
REMARK Review article
Publication Status: Online-Only
REFERENCE 2 (bases 1 to 667)
AUTHORS Piekutowska-Abramczuk D, Assouline Z, Matakovic L, Feichtinger RG,
Konarikova E, Jurkiewicz E, Stawinski P, Gusic M, Koller A, Pollak
A, Gasperowicz P, Trubicka J, Ciara E, Iwanicka-Pronicka K, Rokicki
D, Hanein S, Wortmann SB, Sperl W, Rotig A, Prokisch H, Pronicka E,
Ploski R, Barcia G and Mayr JA.
TITLE NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in
Individuals with Leigh-like Encephalomyopathy
JOURNAL Am J Hum Genet 102 (3), 460-467 (2018)
PUBMED 29429571
REMARK GeneRIF: NDUFB8 is a relevant gene in childhood-onset mitochondrial
disease.
REFERENCE 3 (bases 1 to 667)
AUTHORS Ahmed ST, Alston CL, Hopton S, He L, Hargreaves IP, Falkous G,
Olahova M, McFarland R, Turnbull DM, Rocha MC and Taylor RW.
TITLE Using a quantitative quadruple immunofluorescent assay to diagnose
isolated mitochondrial Complex I deficiency
JOURNAL Sci Rep 7 (1), 15676 (2017)
PUBMED 29142257
REMARK GeneRIF: We observed loss of NDUFB8 immunoreactivity in all
patients with mutations affecting nuclear-encoding structural
subunits and assembly factors, whilst only 3 of the 10 patients
with mutations affecting mtDNA-encoded structural subunits showed
loss of NDUFB8, confirmed by BN-PAGE analysis of CI assembly and
IHC using an alternative, commercially-available CI (NDUFS3)
antibody.
Publication Status: Online-Only
REFERENCE 4 (bases 1 to 667)
AUTHORS Guo R, Zong S, Wu M, Gu J and Yang M.
TITLE Architecture of Human Mitochondrial Respiratory Megacomplex
I2III2IV2
JOURNAL Cell 170 (6), 1247-1257 (2017)
PUBMED 28844695
REFERENCE 5 (bases 1 to 667)
AUTHORS Stroud DA, Surgenor EE, Formosa LE, Reljic B, Frazier AE, Dibley
MG, Osellame LD, Stait T, Beilharz TH, Thorburn DR, Salim A and
Ryan MT.
TITLE Accessory subunits are integral for assembly and function of human
mitochondrial complex I
JOURNAL Nature 538 (7623), 123-126 (2016)
PUBMED 27626371
REFERENCE 6 (bases 1 to 667)
AUTHORS Simpson JC, Wellenreuther R, Poustka A, Pepperkok R and Wiemann S.
TITLE Systematic subcellular localization of novel proteins identified by
large-scale cDNA sequencing
JOURNAL EMBO Rep 1 (3), 287-292 (2000)
PUBMED 11256614
REFERENCE 7 (bases 1 to 667)
AUTHORS Emahazion T, Jobs M, Howell WM, Siegfried M, Wyoni PI, Prince JA
and Brookes AJ.
TITLE Identification of 167 polymorphisms in 88 genes from candidate
neurodegeneration pathways
JOURNAL Gene 238 (2), 315-324 (1999)
PUBMED 10570959
REFERENCE 8 (bases 1 to 667)
AUTHORS Loeffen JL, Triepels RH, van den Heuvel LP, Schuelke M, Buskens CA,
Smeets RJ, Trijbels JM and Smeitink JA.
TITLE cDNA of eight nuclear encoded subunits of NADH:ubiquinone
oxidoreductase: human complex I cDNA characterization completed
JOURNAL Biochem Biophys Res Commun 253 (2), 415-422 (1998)
PUBMED 9878551
REFERENCE 9 (bases 1 to 667)
AUTHORS Emahazion T and Brookes AJ.
TITLE Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron
transport chain genes by intron based radiation hybrid mapping
JOURNAL Cytogenet Cell Genet 82 (1-2), 114 (1998)
PUBMED 9763676
REFERENCE 10 (bases 1 to 667)
AUTHORS Dunbar DR, Shibasaki Y, Dobbie L, Andersson B and Brookes AJ.
TITLE In situ hybridisation mapping of genomic clones for five human
respiratory chain complex I genes
JOURNAL Cytogenet Cell Genet 78 (1), 21-24 (1997)
PUBMED 9345899
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
DA428446.1, BM008944.1, AI282606.1 and AA782554.1.
On Oct 1, 2013 this sequence version replaced XM_005269856.1.
Transcript Variant: This variant (3) uses an alternate splice site
in the 5' terminal exon, lacks a portion of the 5' coding region,
and initiates translation at a downstream start codon, compared to
variant 1. The encoded isoform (3) has a shorter N-terminus
compared to isoform 1.
Publication Note: This RefSeq record includes a subset of the
publications that are available for this gene. Please see the Gene
record to access additional publications.
##Evidence-Data-START##
Transcript exon combination :: BI602529.1, BI601381.1 [ECO:0000332]
RNAseq introns :: mixed sample support SAMEA1965299,
SAMEA1966682 [ECO:0006172]
##Evidence-Data-END##
##RefSeq-Attributes-START##
gene product(s) localized to mito. :: reported by MitoCarta
##RefSeq-Attributes-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-12 DA428446.1 1-12
13-559 BM008944.1 1-547
560-639 AI282606.1 2-81 c
640-667 AA782554.1 1-28 c
FEATURES Location/Qualifiers
source 1..667
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="10"
/map="10q24.31"
gene 1..667
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="NADH:ubiquinone oxidoreductase subunit B8"
/db_xref="GeneID:4714"
/db_xref="HGNC:HGNC:7703"
/db_xref="MIM:602140"
exon 1..66
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 1
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1852124717"
variation 2
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:532014464"
variation 3
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1010653040"
variation 6
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1589748072"
variation 7
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1402376640"
variation 10
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1299237912"
variation 14
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1340248070"
variation 20
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:956546630"
variation 24
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:752116931"
variation 26
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1479597439"
variation 28
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:2133715141"
variation 29
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="aaa"
/db_xref="dbSNP:1852124304"
variation 29
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:2133715134"
variation 31
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:764495566"
variation 33
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1239183047"
variation 36
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:998892558"
variation 39
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1239096003"
variation 41
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1852123930"
variation 42
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:758719679"
variation 44
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:760660033"
variation 45..46
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="gc"
/db_xref="dbSNP:1852123718"
variation 47
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1220807626"
variation 48
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="g"
/db_xref="dbSNP:745610166"
variation 48
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:374820120"
variation 51
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852123452"
variation 53
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1564659022"
variation 55
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:2133715099"
variation 57
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1398097286"
variation 58
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852123249"
variation 59
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:759646934"
variation 61
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:753930427"
variation 62
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1440500154"
variation 63
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1465595419"
variation 65
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:766447378"
exon 67..193
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 67
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:200405716"
variation 68
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:781076920"
variation 70
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1589747812"
variation 71
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1197973446"
variation 72
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:757380757"
CDS 75..542
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="isoform 3 is encoded by transcript variant 3;
complex I ASHI subunit; NADH dehydrogenase [ubiquinone] 1
beta subcomplex subunit 8, mitochondrial; NADH:ubiquinone
oxidoreductase ASHI subunit; complex I-ASHI; NADH
dehydrogenase (ubiquinone) 1 beta subcomplex, 8, 19kDa"
/codon_start=1
/product="NADH dehydrogenase [ubiquinone] 1 beta
subcomplex subunit 8, mitochondrial isoform 3"
/protein_id="NP_001271297.1"
/db_xref="CCDS:CCDS65916.1"
/db_xref="GeneID:4714"
/db_xref="HGNC:HGNC:7703"
/db_xref="MIM:602140"
/translation="
MTKDMFPGPYPRTPEERAAAAKKYNMRVEDYEPYPDDGMGYGDYPKLPDRSQHERDPWYSWDQPGLRLNWGEPMHWHLDMYNRNRVDTSPTPVSWHVMCMQLFGFLAFMIFMCWVGDVYPVYQPVGPKQYPYNNLYLERGGDPSKEPERVVHYEI"
misc_feature 75..539
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="NADH-ubiquinone oxidoreductase ASHI subunit
(CI-ASHI or NDUFB8); Region: NDUF_B8; pfam05821"
/db_xref="CDD:428637"
variation 75
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1323032685"
variation 79
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852112566"
variation 80
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:751413358"
variation 81
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852112420"
variation 82
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1223153563"
variation 83
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:764140417"
variation 84
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:758254924"
variation 85
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1312296001"
variation 86
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:144790458"
variation 87
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:765127094"
variation 88
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852111919"
variation 90
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1589747789"
variation 92
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1589747784"
variation 93
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852111701"
variation 94
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:759204762"
variation 95
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1231617595"
variation 97
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1564658791"
variation 98
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1347794017"
variation 99
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1589747772"
variation 100
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1284271077"
variation 101
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:1589747767"
variation 102
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="t"
/replace="tt"
/db_xref="dbSNP:1353672637"
variation 105
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:776366809"
variation 108
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1029277811"
variation 112
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1852110845"
variation 114
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1734732941"
variation 115
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:765763068"
variation 123
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1564658779"
variation 124
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:760276028"
variation 126
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:774701819"
variation 128
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1385302293"
variation 130
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:370646549"
variation 131
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:749651049"
variation 132
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1431194011"
variation 134
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:374858636"
variation 135
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:770159278"
variation 136
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1852110065"
variation 140
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1253685328"
variation 142
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:202208089"
variation 144
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1852109839"
variation 148
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:746041997"
variation 150
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:371166959"
variation 152
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:747170990"
variation 153
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1277930360"
variation 154
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:777566917"
variation 165
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1554843434"
variation 167
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852109316"
variation 169..170
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="aa"
/db_xref="dbSNP:1264186261"
variation 169
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:758343104"
variation 170
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589747722"
variation 172
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1589747721"
variation 173
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1589747717"
variation 174
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:548513373"
variation 175
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:752691357"
variation 176
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852108767"
variation 179
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1589747709"
variation 180
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:201800577"
variation 186
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:754849509"
variation 187
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1326523429"
variation 189
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1005571394"
variation 191
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:373520531"
variation 193
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:753398848"
exon 194..293
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 196
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:753173137"
variation 200
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1243228211"
variation 201
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:765790228"
variation 203
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:759812842"
variation 208
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1239013578"
variation 209
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852064713"
variation 213
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:199893243"
variation 216
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:771212688"
variation 222
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:375681068"
variation 223
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1349292336"
variation 224
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852064146"
variation 228
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1006986751"
variation 231
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1240718429"
variation 233
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1301217677"
variation 235
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1462645305"
variation 238
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:746755969"
variation 239
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589746700"
variation 242
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1249653129"
variation 243
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1417118241"
variation 245
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1564658096"
variation 247
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:773596188"
variation 248
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852063429"
variation 252
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1414529540"
variation 254
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:563427442"
variation 258
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:774420062"
variation 262
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:2133711484"
variation 263
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:371943326"
variation 264
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:149421373"
variation 265
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:779843883"
variation 266
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:140007412"
variation 272
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:545322090"
variation 275
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:2133711462"
variation 278
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:780865155"
variation 283
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:756739746"
variation 285
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1490644262"
variation 286
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1390073015"
variation 290
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:755572616"
variation 292
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:185514139"
variation 293
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:368053910"
exon 294..449
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 296
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:746676560"
variation 301
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1261907379"
variation 303
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1457512706"
variation 304
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:978524809"
variation 305
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1311207270"
variation 306
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:777288090"
variation 308
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1852055216"
variation 311
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852055150"
variation 313
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852055089"
variation 314
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1210714520"
variation 315
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1225097898"
variation 320
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:757873469"
variation 322
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852054849"
variation 327
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:150699698"
variation 328
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:200080913"
variation 329
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852054619"
variation 332
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1364192590"
variation 334
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:917147305"
variation 337
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1289475597"
variation 339
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="t"
/db_xref="dbSNP:2133710956"
variation 340
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:11552667"
variation 343
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1465760792"
variation 344
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1852054334"
variation 345
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:199739248"
variation 347
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:750887910"
variation 348
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:866840327"
variation 349
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:74154666"
variation 350
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:762073731"
variation 351
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:774740786"
variation 352
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:924719214"
variation 354
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1802224"
variation 355
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1186565311"
variation 361..362
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="at"
/db_xref="dbSNP:1564657892"
variation 361
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:559234558"
variation 362
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852053430"
variation 364
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:775478218"
variation 366..367
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="at"
/db_xref="dbSNP:1412201574"
variation 366
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:769679829"
variation 367
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1324010433"
variation 370
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1257131806"
variation 371
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1489656155"
variation 372
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:547145059"
variation 375
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1852052754"
variation 380
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:759472442"
variation 383
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:775806330"
variation 384..387
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="ggtt"
/db_xref="dbSNP:1852052314"
variation 384
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:770735541"
variation 386
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:746623340"
variation 390
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:777327930"
variation 398
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1230454152"
variation 401
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:889334038"
variation 408
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:765591575"
variation 410
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:747668007"
variation 412
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1166474531"
variation 413
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1554843251"
variation 417
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:780603311"
variation 418
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:1589746369"
variation 419..423
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="ggggg"
/replace="gggggg"
/db_xref="dbSNP:1281408166"
variation 419
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1564657838"
variation 421
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:756626427"
variation 423
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:371563487"
variation 424
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1443463176"
variation 425
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:367781741"
variation 426
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:141801241"
variation 430
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:751774934"
variation 433
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:375513200"
variation 435
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:763076321"
variation 437
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1852050732"
variation 439
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:752651050"
variation 440
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1476769829"
variation 445
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1481608279"
variation 446
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:2133710733"
variation 447
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:765371638"
exon 450..650
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/inference="alignment:Splign:2.1.0"
variation 451
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:755033805"
variation 452
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1227721930"
variation 453..454
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="cc"
/db_xref="dbSNP:1014974582"
variation 453
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:554508872"
variation 454
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:536256551"
variation 456
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1256746661"
variation 457
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1852000115"
variation 458
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1273787354"
variation 460
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1432271522"
variation 461
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:755950389"
variation 462
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1335681657"
variation 465
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/replace="t"
/db_xref="dbSNP:750400047"
variation 466
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:767181095"
variation 468
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1851999641"
variation 469
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1334522892"
variation 471
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1447317435"
variation 473
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1409348197"
variation 477
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1589745382"
variation 481
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1015814951"
variation 482
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:2133708153"
variation 483
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1417272593"
variation 485..496
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="gg"
/replace="ggaacgaggcgg"
/db_xref="dbSNP:755543402"
variation 489
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:761712789"
variation 490
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:143117272"
variation 494
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:145033355"
variation 495
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1057136071"
variation 497
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1419292653"
variation 498
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1181997824"
variation 501
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:762549874"
variation 512
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1851998447"
variation 519
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:775076125"
variation 520
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:769449155"
variation 521
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1436635101"
variation 522
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589745344"
variation 524
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/replace="t"
/db_xref="dbSNP:1157281961"
variation 526
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1387625007"
variation 532
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="g"
/db_xref="dbSNP:773808077"
variation 533
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:372940223"
variation 538
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1353153402"
variation 539
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1851997784"
variation 541
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1215602767"
variation 544
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:772301961"
variation 548
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1851997611"
variation 551
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:748599424"
variation 552
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:200839476"
variation 555
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:755123646"
variation 565
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1851997310"
variation 567
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1284621853"
variation 569
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:2133708061"
variation 575
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1851997218"
variation 587..588
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="t"
/replace="tt"
/db_xref="dbSNP:754088775"
variation 592
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/db_xref="dbSNP:1044402137"
variation 601
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1035578454"
variation 602
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1236824442"
variation 603
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1262381753"
variation 604
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1851996961"
variation 606
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1589745305"
variation 607
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1351186494"
variation 610
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1209863909"
variation 612
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:1254223197"
variation 616
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:1851996751"
variation 617
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1240873376"
regulatory 618..623
/regulatory_class="polyA_signal_sequence"
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="hexamer: AATAAA"
variation 618
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:2133708020"
variation 621
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="g"
/db_xref="dbSNP:1851996658"
variation 626
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1003789817"
variation 630
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:2133708015"
variation 632
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="t"
/db_xref="dbSNP:553345762"
variation 636
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="c"
/replace="g"
/db_xref="dbSNP:1589745291"
variation 638
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="t"
/db_xref="dbSNP:3179689"
polyA_site 639
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/note="major polyA site"
variation 645
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="g"
/replace="t"
/db_xref="dbSNP:1258331123"
variation 646..647
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace=""
/replace="cc"
/db_xref="dbSNP:1851996196"
variation 646
/gene="NDUFB8"
/gene_synonym="ASHI; CI-ASHI; MC1DN32"
/replace="a"
/replace="c"
/replace="t"
/db_xref="dbSNP:1180324323"
ORIGIN
acgtttggcccggctcagccgccgtgacaggcctttgcgcatgtgcagaagggaaacgtgaagaagcctcccacatgaccaaggacatgttcccggggccctatcctaggaccccagaagaacgggccgccgccgccaagaagtataatatgcgtgtggaagactacgaaccttacccggatgatggcatggggtatggcgactacccgaagctccctgaccgctcacagcatgagagagatccatggtatagctgggaccagccgggcctgaggttgaactggggtgaaccgatgcactggcacctagacatgtacaacaggaaccgtgtggatacatcccccacacctgtttcttggcatgtcatgtgtatgcagctcttcggtttcctggctttcatgatattcatgtgctgggtgggggacgtgtaccctgtctaccagcctgtgggaccaaagcagtatccttacaataatctgtacctggaacgaggcggtgatccctccaaagaaccagagcgggtggttcactatgagatctgaggaggcttcgtgggcttttgggtcctctaactaggactccctcattcctagaaatttaaccttaatgaaatccctaataaaactcagtgctgtgttatttgtgcctcaaaaaaaaaaaaaaaaaa
//
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.
[Full Text]