Product Details

SNP ID

rs144931788

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:129254712 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAAAGAAGACAACTACCGGGGCC[C/T]GGCCGTGCGAGCCCTCTGCCAGATC

Phenotype

MIM: 615525

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COPG1 PubMed Links

Gene Details

Gene

COPG1

Gene Name

coatomer protein complex subunit gamma 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016128.3	468	Missense Mutation	CCG,CTG	P123L	NP_057212.1
XM_011512549.2	468	Missense Mutation	CCG,CTG	P123L	XP_011510851.1

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