Product Details

SNP ID

rs143408057

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:144504689 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCAGAGGCCCATCACCTTCCTGC[A/G]CCAGGTGAGGCTCCTGCACTGCCCG

Phenotype

MIM: 138200 MIM: 609172 MIM: 603780

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GPT PubMed Links

Gene Details

Gene

GPT

Gene Name

glutamic--pyruvic transaminase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005309.2	1161	Missense Mutation	CAC,CGC	H83R	NP_005300.1
XM_011516993.2	1161	Missense Mutation	CAC,CGC	H83R	XP_011515295.1

Gene

LOC101928953

Gene Name

uncharacterized LOC101928953

There are no transcripts associated with this gene.

Gene

MFSD3

Gene Name

major facilitator superfamily domain containing 3

There are no transcripts associated with this gene.

Gene

PPP1R16A

Gene Name

protein phosphatase 1 regulatory subunit 16A

There are no transcripts associated with this gene.

Gene

RECQL4

Gene Name

RecQ like helicase 4

There are no transcripts associated with this gene.

View Full Product Details