Product Details

SNP ID

rs17852416

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:76346164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGAAGATAGTAATGTAACAAGAT[A/C]TCAAAATTACCACCTACTGGCAAAA

Phenotype

MIM: 610148 MIM: 606736

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

BBS10 PubMed Links

Gene Details

Gene

BBS10

Gene Name

Bardet-Biedl syndrome 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024685.3	1905	Missense Mutation	GAG,GAT	E607D	NP_078961.3

Gene

OSBPL8

Gene Name

oxysterol binding protein like 8

There are no transcripts associated with this gene.

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