Product Details

SNP ID

rs115740639

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:46900691 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTCTTGTTCCCCCAGGTGATGGCA[C/T]TATGCACCTACCCAAACCTGCTGGA

Phenotype

MIM: 138210

Polymorphism

C/T, Transition 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	429	Silent Mutation	CTA,TTA	L15L	NP_001135938.1
NM_133443.3	429	Silent Mutation	CTA,TTA	L115L	NP_597700.1
XM_017023790.1	429	Intron			XP_016879279.1

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