Product Details

SNP ID

rs146171632

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:169510254 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCATTTCTGCCCGTGAATTTGTGT[C/G]TGATCGCTTTGTACAGATTTGTAAG

Phenotype

MIM: 603650 MIM: 607701

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

BBS5 PubMed Links

Gene Details

Gene

BBS5

Gene Name

Bardet-Biedl syndrome 5

There are no transcripts associated with this gene.

Gene

KLHL41

Gene Name

kelch like family member 41

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006063.2	553	Missense Mutation	TCT,TGT	S159C	NP_006054.2

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