Product Details

SNP ID

rs142551391

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:129254682 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCCTGCAGCCTAACAAAAGACA[C/T]GACTGGGAAAGAAGACAACTACCGG

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	438	Missense Mutation	ACG,ATG	T113M	NP_057212.1
XM_011512549.2	438	Missense Mutation	ACG,ATG	T113M	XP_011510851.1

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