Product Details

SNP ID

rs146811566

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:151213409 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCAATTTCTTACATAAGATTTCC[C/G]TAAACGGCTGGCATAGAAAGAAATA

Phenotype

MIM: 611318 MIM: 610116

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GPR171 PubMed Links

Gene Details

Gene

GPR171

Gene Name

G protein-coupled receptor 171

There are no transcripts associated with this gene.

Gene

MED12L

Gene Name

mediator complex subunit 12 like

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_053002.5	1196	Intron			NP_443728.3
XM_006713487.3	1196	Intron			XP_006713550.1
XM_011512390.2	1196	Intron			XP_011510692.1
XM_011512394.2	1196	Intron			XP_011510696.1
XM_011512399.2	1196	Intron			XP_011510701.1
XM_017005676.1	1196	Intron			XP_016861165.1
XM_017005677.1	1196	Intron			XP_016861166.1
XM_017005678.1	1196	Intron			XP_016861167.1
XM_017005679.1	1196	Intron			XP_016861168.1
XM_017005680.1	1196	Intron			XP_016861169.1
XM_017005681.1	1196	Intron			XP_016861170.1

Gene

P2RY14

Gene Name

purinergic receptor P2Y14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001081455.1	1196	Missense Mutation	ACG,AGG	T303R	NP_001074924.1
NM_014879.3	1196	Missense Mutation	ACG,AGG	T303R	NP_055694.3
XM_005247922.3	1196	Missense Mutation	ACG,AGG	T303R	XP_005247979.1
XM_005247923.3	1196	Missense Mutation	ACG,AGG	T303R	XP_005247980.1
XM_011513340.2	1196	Missense Mutation	ACG,AGG	T303R	XP_011511642.1
XM_017007583.1	1196	Missense Mutation	ACG,AGG	T303R	XP_016863072.1

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