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2024-04-19 13:37:52, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_001017961 1481 bp mRNA linear PRI 17-APR-2013
DEFINITION Homo sapiens family with sequence similarity 78, member B (FAM78B),
mRNA.
ACCESSION NM_001017961 XM_097622
VERSION NM_001017961.3 GI:291190056
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 1481)
AUTHORS Ehret,G.B., O'Connor,A.A., Weder,A., Cooper,R.S. and Chakravarti,A.
TITLE Follow-up of a major linkage peak on chromosome 1 reveals
suggestive QTLs associated with essential hypertension: GenNet
study
JOURNAL Eur. J. Hum. Genet. 17 (12), 1650-1657 (2009)
PUBMED 19536175
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
REFERENCE 2 (bases 1 to 1481)
AUTHORS Cheung,C.L., Chan,B.Y., Chan,V., Ikegawa,S., Kou,I., Ngai,H.,
Smith,D., Luk,K.D., Huang,Q.Y., Mori,S., Sham,P.C. and Kung,A.W.
TITLE Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible
genetic association with bone mineral density variation
JOURNAL Hum. Mol. Genet. 18 (4), 679-687 (2009)
PUBMED 19064610
REMARK GeneRIF: Observational study of gene-disease association. (HuGE
Navigator)
COMMENT VALIDATED REFSEQ: This record has undergone validation or
preliminary review. The reference sequence was derived from
AL596087.11 and AL626787.9.
On Mar 18, 2010 this sequence version replaced gi:90968571.
Sequence Note: The RefSeq transcript and protein were derived from
genomic sequence 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 :: BE388915.1, BE388915.1, DC334190.1
[ECO:0000332]
RNAseq introns :: single sample supports all introns
ERS025084, ERS025085 [ECO:0000348]
##Evidence-Data-END##
COMPLETENESS: complete on the 3' end.
PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP
1-736 AL596087.11 45981-46716 c
737-1481 AL626787.9 19899-20643 c
FEATURES Location/Qualifiers
source 1..1481
/organism="Homo sapiens"
/mol_type="mRNA"
/db_xref="taxon:9606"
/chromosome="1"
/map="1q24.1"
gene 1..1481
/gene="FAM78B"
/note="family with sequence similarity 78, member B"
/db_xref="GeneID:149297"
/db_xref="HGNC:13495"
/db_xref="HPRD:18557"
exon 1..736
/gene="FAM78B"
/inference="alignment:Splign:1.39.8"
misc_feature 399..401
/gene="FAM78B"
/note="upstream in-frame stop codon"
variation complement(457)
/gene="FAM78B"
/replace="a"
/replace="c"
/db_xref="dbSNP:374038216"
variation complement(458)
/gene="FAM78B"
/replace="g"
/replace="t"
/db_xref="dbSNP:370880980"
CDS 474..1259
/gene="FAM78B"
/codon_start=1
/product="protein FAM78B"
/protein_id="NP_001017961.1"
/db_xref="GI:63003928"
/db_xref="CCDS:CCDS30931.1"
/db_xref="GeneID:149297"
/db_xref="HGNC:13495"
/db_xref="HPRD:18557"
/translation="
MGCIQSITCKARIRRENIVVYDVCATIDQCPTRIEETSPIVLRYKTPYFKASARVVMPPIPRHETWVVGWIQACNQMEFFNTYSDLGMSSWELPDLREGRVKAISDSDGVSYPWYGNTTETVTLVGPTNKISRFSVSMNDNFYPSVTWAVPVSDSNVPLLTRIKRDQSFTTWLVAMNTTTKEKIILQTIKWRMRVDIEVDPLQLLGQRARLVGRTQQEQPRILSRMEPIPPNALVKPNANDAQVLMWRPKRGPPLVVIPPK
"
variation complement(584)
/gene="FAM78B"
/replace="c"
/replace="t"
/db_xref="dbSNP:140686242"
variation complement(688)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:202203172"
variation complement(701)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:372989392"
variation complement(713)
/gene="FAM78B"
/replace="c"
/replace="t"
/db_xref="dbSNP:369560911"
variation complement(729)
/gene="FAM78B"
/replace="c"
/replace="g"
/db_xref="dbSNP:375253617"
variation complement(735)
/gene="FAM78B"
/replace="a"
/replace="t"
/db_xref="dbSNP:200433411"
exon 737..1481
/gene="FAM78B"
/inference="alignment:Splign:1.39.8"
variation complement(776)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:201199659"
variation complement(783)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:201590163"
variation complement(791)
/gene="FAM78B"
/replace="c"
/replace="t"
/db_xref="dbSNP:371850191"
variation complement(839)
/gene="FAM78B"
/replace="c"
/replace="g"
/db_xref="dbSNP:41269662"
variation complement(842)
/gene="FAM78B"
/replace="c"
/replace="t"
/db_xref="dbSNP:61740243"
variation complement(846)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:192214368"
variation complement(872)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:147950899"
variation complement(879)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:368578294"
variation complement(881)
/gene="FAM78B"
/replace="c"
/replace="g"
/db_xref="dbSNP:377247495"
variation complement(940)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:116091195"
variation complement(983)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:143651089"
variation complement(1022)
/gene="FAM78B"
/replace="g"
/replace="t"
/db_xref="dbSNP:183423307"
variation complement(1024)
/gene="FAM78B"
/replace="c"
/replace="t"
/db_xref="dbSNP:189537822"
variation complement(1033)
/gene="FAM78B"
/replace="a"
/replace="c"
/db_xref="dbSNP:201621386"
variation complement(1038)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:149784255"
variation complement(1055)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:370452969"
variation complement(1097)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:368051490"
variation complement(1101)
/gene="FAM78B"
/replace="c"
/replace="t"
/db_xref="dbSNP:202158388"
variation complement(1102)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:142873273"
variation complement(1115)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:367984984"
variation complement(1126)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:201938645"
variation complement(1135)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:146248661"
variation complement(1155)
/gene="FAM78B"
/replace="c"
/replace="t"
/db_xref="dbSNP:370407096"
variation complement(1161)
/gene="FAM78B"
/replace="c"
/replace="t"
/db_xref="dbSNP:138775815"
variation complement(1164)
/gene="FAM78B"
/replace="a"
/replace="c"
/db_xref="dbSNP:144142558"
variation complement(1192)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:137906062"
variation complement(1225)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:138713518"
variation complement(1229)
/gene="FAM78B"
/replace="c"
/replace="g"
/db_xref="dbSNP:376347688"
variation complement(1293)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:185998444"
variation complement(1306)
/gene="FAM78B"
/replace="g"
/replace="t"
/db_xref="dbSNP:375630314"
variation complement(1436)
/gene="FAM78B"
/replace="g"
/replace="t"
/db_xref="dbSNP:79528687"
variation complement(1438)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:7412853"
variation complement(1440)
/gene="FAM78B"
/replace="a"
/replace="g"
/db_xref="dbSNP:183133993"
ORIGIN
cggcggcggctgctgctgctgccgccgcggaggcagacagaccgggcgctgccaccgccgccctcccccggctccatgccgccgccgctgccgcctcctcctctccggcgaggggcggggggctccggcccggggtgggcaccattcctcgcagcgccgctcccctccctgccctccgcccgggcgctggagccggcgagggcacccgccgcctcctaggagtgcaccctccgcgcgccctgccggagcgagggggcgggcgtgggcggacgtcggggcagcggggaccccgcgcggctgcaagaggagggggcttccccaaggatgcccggcggctccccgctcctaggtgcgagctgagtctgaccgggagcgagcggcgcgtcgccatgccggcgtgacgggcgcccccggctgcccgcgcgggcccccgcgctgccccacgccgcgccgtgccggcaccgggctgcaggatgggctgtatccaaagcatcacctgcaaggcgcggatccggcgcgagaacatcgtggtgtacgatgtgtgcgccaccatcgaccagtgccccacgcgcatcgaggagacctcgcccatcgtcctgcgctacaagaccccctacttcaaagcctccgcccgcgtggtcatgccccccatcccccgccacgagacctgggtggtgggctggattcaggcgtgcaatcagatggagttcttcaacacctacagcgacctgggcatgtcaagctgggaactgcctgacttgagggaagggagagtaaaagccatcagtgactcagatggggtgagctacccttggtacgggaacaccacagaaactgtgaccctggttggccccaccaacaagatctccaggttctccgtcagcatgaatgacaacttctaccccagtgtgacatgggcagtgcctgtgagtgacagcaatgtgccactgctcacaagaatcaagagagaccaaagtttcacgacctggctggtggccatgaacaccaccacaaaggagaagatcattctgcagaccatcaagtggaggatgagggtggacattgaagtggaccctcttcagctcttggggcagcgggcccggctggtgggcaggactcagcaggagcagccccggatcctgagccggatggaacccatcccccctaatgcactagtgaaacccaatgccaatgatgcccaggtcctcatgtggaggcccaagcgggggccacctctggttgtgatccctcctaagtagaagcagactggcctgactgtgtgtggatcacacgcctctgagacatgcagtgagggtgccaggggtggcaggagccaaacagagtttctgagccaaagcagacctctcggtttgccagcctttgcagccacttttgaagagtagggctgctccttgggtggtagaaccataatccttaggaaaaatcccttcctcttaggaataaagaaatcactgatttga
//
by
@meso_cacase at
DBCLS
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