Product Details

SNP ID
rs117221459
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:174448830 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCACACCAAAGAGATAAATGACC[A/G]AAGAGCCCGATTCCCTAGTCATGAG
Phenotype
MIM: 604106 MIM: 609238
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GPR52 PubMed Links

Gene Details

Gene
GPR52
Gene Name
G protein-coupled receptor 52
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005684.4 757 Missense Mutation CAA,CGA Q240R NP_005675.3
Gene
RABGAP1L
Gene Name
RAB GTPase activating protein 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001035230.2 757 Intron NP_001030307.1
NM_001243763.1 757 Intron NP_001230692.1
NM_001243764.1 757 Intron NP_001230693.1
NM_001243765.1 757 Intron NP_001230694.1
NM_014857.4 757 Intron NP_055672.3
XM_005245680.1 757 Intron XP_005245737.1
XM_005245681.2 757 Intron XP_005245738.1
XM_006711693.1 757 Intron XP_006711756.1
XM_011510223.2 757 Intron XP_011508525.1
XM_017002994.1 757 Intron XP_016858483.1
XM_017002995.1 757 Intron XP_016858484.1
XM_017002996.1 757 Intron XP_016858485.1
XM_017002997.1 757 Intron XP_016858486.1
XM_017002998.1 757 Intron XP_016858487.1
XM_017002999.1 757 Intron XP_016858488.1

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