Product Details

SNP ID
rs11687905
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:169481132 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GAAATGATATTCATATCCCCCCGTT[C/G]TAGTGCAGGAGATACATACAGACAA
Phenotype
MIM: 603650
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BBS5 PubMed Links

Gene Details

Gene
BBS5
Gene Name
Bardet-Biedl syndrome 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_152384.2 Intron NP_689597.1

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