Bardet-Biedl syndrome 7 (BBS7)
Name: BBS7
Description: Bardet-Biedl syndrome 7
Orgname: Homo sapiens
Status: 0
CurrentID: 0
Chromosome: 4
GeneticSource: genomic
MapLocation: 4q27
OtherAliases: BBS2L1, FLJ10715
OtherDesignations: BBS2-like 1|Bardet-Biedl syndrome 7 protein
NomenclatureSymbol: BBS7
NomenclatureName: Bardet-Biedl syndrome 7
NomenclatureStatus: Official
TaxID: 9606
Mim:
GenomicInfo:
GeneWeight: 3004
Summary: Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq]
ChrSort: 04
ChrStart: 122745634
UniProtein db: BBS7 UniProt protein knowledge database
Ensembl db: BBS7 Ensembl genome database
Complete information for BBS7 gene (protein-coding), Bardet-Biedl syndrome 7
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A novel mutation in BBS7 gene causes Bardet–Biedl syndrome in a Chinese family ... However, no BBS gene mutation has been reported in Chinese populations. ...
Alternative mRNA variants and regulation: The gene contains 20 distinct gt-ag introns. ... Isoform BBS7.fApr07 is annotated using as Met a Kozak-compatible a..AGG. ...
Mouse Bbs7 Chr3:36472064-36512399 bp, - strand has data for genome coordinates, ... Bbs7 Gene Detail. Symbol. Name. ID. Bbs7. Bardet-Biedl syndrome 7 (human) ...
Bbs7. Mus musculus. AF521645. GENE LOCUS DATA. Click on entry to see ... Novel Bardet-Biedl Syndrome Protein, BBS7, That Shares Structural Features with ...
Gene symbol. Chromosomal location. Gene name. Log in. BBS7. 4q27. Bardet-Biedl syndrome 7 ... Gene Symbol. Chromosomal location. Gene name. Log in. BBS7. 4q27. Bardet ...
Amplification of the Junctional Fragment in the BBS7 Deletion. ... We also report the first large deletion in the BBS7 gene, with a homozygous loss of exons 9 through 15. ...
gene of the affected individual of family 57014 was performed in 50- L ... a new gene physically close to the BBS7 gene. There is some suggestion of new BBS loci in ...
Species: Hu. Mutations in this gene have been observed in patients with Bardet ... BBS7 (NP_789794.1, 1 a.a. ~ 715 a.a) full-length h uman protein. ...
bbs7 - BioPortfolio ... MIM *607590 · Cloning · Gene Structure · Gene Function · Mapping · Molecular Genetics · Allelic Variants · View List · References · Creation Date ...
Bardet-Biedl syndrome 7 also known as BBS7 is a human gene.[1] ... This article on a gene on chromosome 4 is a stub. You can help Wikipedia by expanding it. ...
sitional cloning of the BBS1 gene was aided by the find- ing of ... chromosome 4 that contained the BBS7 gene. Characterization of this region of ...
Back: Gene: BBS7 -> Gene Index: B. Home. Genetic databases: dbSNP rs11937223. dbGAP. Swiss-Prot. PharmGKB. SeattleSNPs. Genome databases: UCSC Genome Position rs11937223 ...