Product Details

SNP ID

rs200981578

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:129252918 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGCTACTTGACCATCAAGGAGATG[A/T]CTTGCATTGCAGAGGATGTCATCAT

Phenotype

MIM: 615525

Polymorphism

A/T, Transversion 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	386	Missense Mutation	ACT,TCT	T96S	NP_057212.1
XM_011512549.2	386	Missense Mutation	ACT,TCT	T96S	XP_011510851.1

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