Product Details

SNP ID

rs145226500

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107474844 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCAAGAAAGAAAAAGACAATTTCT[C/G]TAACCACACAACATGAGGCTACAGA

Phenotype

MIM: 606821 MIM: 601910

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

COG5 PubMed Links

Gene Details

Gene

COG5

Gene Name

component of oligomeric golgi complex 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001161520.1	2130	Intron			NP_001154992.1
NM_006348.3	2130	Intron			NP_006339.3
NM_181733.2	2130	Intron			NP_859422.2

Gene

GPR22

Gene Name

G protein-coupled receptor 22

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005295.2	2130	Missense Mutation	CTA,GTA	L262V	NP_005286.2
XM_011516056.2	2130	Missense Mutation	CTA,GTA	L262V	XP_011514358.1

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