Product Details

SNP ID

rs11553179

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66514431 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGTGGTAGGGGACCTTGGCCCTG[G/T]TGGGCAGCAGCCCCGCCTGAAGGTG

Phenotype

MIM: 209901 MIM: 606818

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

BBS1 PubMed Links

Gene Details

Gene

BBS1

Gene Name

Bardet-Biedl syndrome 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024649.4	197	Missense Mutation	GGT,GTT	G62V	NP_078925.3

Gene

DPP3

Gene Name

dipeptidyl peptidase 3

There are no transcripts associated with this gene.

Gene

ZDHHC24

Gene Name

zinc finger DHHC-type containing 24

There are no transcripts associated with this gene.

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