Product Details

SNP ID

rs141647931

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:76346148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTTTTTGGCATAATTGAGAAGAT[A/G]GTAATGTAACAAGATCTCAAAATTA

Phenotype

MIM: 610148 MIM: 606736

Polymorphism

A/G, Transition 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	1921	Missense Mutation	CAT,TAT	H613Y	NP_078961.3

Gene

OSBPL8

Gene Name

oxysterol binding protein like 8

There are no transcripts associated with this gene.

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