Product Details

SNP ID

rs114266469

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:129252354 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCTCACCAAGATTCTTTATCTCA[C/T]AAACCAGGTAACAGGGTGAAGCTTG

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	264	Missense Mutation	ACA,ATA	T55I	NP_057212.1
XM_011512549.2	264	Missense Mutation	ACA,ATA	T55I	XP_011510851.1

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