Product Details

SNP ID

hCV560751

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:9782094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGTTCGCTCTATACCAGCAGCTGG[C/T]GCAGGGGAACGCCGTGGGGGGCTCG

Phenotype

MIM: 126453 MIM: 606142

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DRD5 PubMed Links

Gene Details

Gene

DRD5

Gene Name

dopamine receptor D5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000798.4	461	Missense Mutation	GCG,GTG	A22V	NP_000789.1

Gene

SLC2A9

Gene Name

solute carrier family 2 member 9

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001290.1	461	Intron			NP_001001290.1
NM_020041.2	461	Intron			NP_064425.2

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