Product Details

SNP ID

rs2227850

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:9782886 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGCGCCCGACACCAGCCTGCGCG[C/T]TTCCATCAAGAAGGAGACCAAGGTT

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	1253	Missense Mutation	GCT,GTT	A286V	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	1253	Intron			NP_001001290.1
NM_020041.2	1253	Intron			NP_064425.2
XM_006713968.3	1253	Intron			XP_006714031.1
XM_006713969.2	1253	Intron			XP_006714032.1
XM_011513856.2	1253	Intron			XP_011512158.1
XM_011513857.1	1253	Intron			XP_011512159.1
XM_011513858.1	1253	Intron			XP_011512160.1
XM_011513859.2	1253	Intron			XP_011512161.1
XM_011513860.2	1253	Intron			XP_011512162.1
XM_011513861.2	1253	Intron			XP_011512163.1
XM_011513862.2	1253	Intron			XP_011512164.1
XM_011513863.2	1253	Intron			XP_011512165.1
XM_011513864.2	1253	Intron			XP_011512166.1
XM_011513865.2	1253	Intron			XP_011512167.1
XM_011513866.2	1253	Intron			XP_011512168.1
XM_011513867.2	1253	Intron			XP_011512169.1
XM_011513868.2	1253	Intron			XP_011512170.1
XM_017008457.1	1253	Intron			XP_016863946.1
XM_017008458.1	1253	Intron			XP_016863947.1
XM_017008459.1	1253	Intron			XP_016863948.1
XM_017008460.1	1253	Intron			XP_016863949.1

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