Product Details

SNP ID

rs200001793

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:46884723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCTCCGCAAGCGCGCGATGCAGC[G/T]GGCGGCGGCGCTGGTCCGGCGGGGC

Phenotype

MIM: 138210

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

GPT2 PubMed Links

Gene Details

Gene

GPT2

Gene Name

glutamic--pyruvic transaminase 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142466.2	118	Intron			NP_001135938.1
NM_133443.3	118	Missense Mutation	CGG,CTG	R3L	NP_597700.1
XM_017023790.1	118	Intron			XP_016879279.1

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