Product Details

SNP ID
rs143475431
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144510655 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTCCGCCTCGGGGGCCTAGCCTG[A/T]CAGACTGCCTTGGTCTTCCACCTGG
Phenotype
MIM: 138200 MIM: 609172 MIM: 603780
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
GPT PubMed Links

Gene Details

Gene
GPT
Gene Name
glutamic--pyruvic transaminase
There are no transcripts associated with this gene.

Gene
LOC101928953
Gene Name
uncharacterized LOC101928953
There are no transcripts associated with this gene.

Gene
LRRC14
Gene Name
leucine rich repeat containing 14
There are no transcripts associated with this gene.

Gene
MFSD3
Gene Name
major facilitator superfamily domain containing 3
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_138431.2 2133 Nonsense Mutation TGA,TGT *296C NP_612440.1
XM_011516806.2 2133 Missense Mutation ACA,TCA T294S XP_011515108.1
XM_017013005.1 2133 Nonsense Mutation TGA,TGT *296C XP_016868494.1
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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_004260.3 2133 Intron NP_004251.3
XM_011517384.2 2133 Intron XP_011515686.1
XM_017013991.1 2133 Intron XP_016869480.1
XM_017013992.1 2133 Intron XP_016869481.1
XM_017013993.1 2133 Intron XP_016869482.1
XM_017013994.1 2133 Intron XP_016869483.1
XM_017013995.1 2133 Intron XP_016869484.1
XM_017013996.1 2133 Intron XP_016869485.1
XM_017013997.1 2133 Intron XP_016869486.1
XM_017013998.1 2133 Intron XP_016869487.1
XM_017013999.1 2133 Intron XP_016869488.1
XM_017014000.1 2133 Intron XP_016869489.1
XM_017014001.1 2133 Intron XP_016869490.1

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