Product Details

SNP ID

rs200130774

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:26481950 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTTGGCGCTGAAGATGGGCATCCA[G/T]CACAGGAAGAAGAGGACCACGATGA

Phenotype

MIM: 118444

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CCKAR PubMed Links

Gene Details

Gene

CCKAR

Gene Name

cholecystokinin A receptor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000730.2	1128	Nonsense Mutation	TGA,TGC	*325C	NP_000721.1

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