Product Details

SNP ID

rs10188609

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:169479592 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ATGCGCTTTGGGAGGATCGGGATGT[C/G]CGTTTCGACCTGTCCGCGCAGTGAG

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	97	Silent Mutation	GTC,GTG	V13V	NP_689597.1

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