Product Details

SNP ID
rs36078464
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.8:144511990 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTTCCTCTTCCTCAAAGTAGCGG[C/T]CGAGCAGGTCCTTGAGCCTGGTGCT
Phenotype
MIM: 138200 MIM: 609172 MIM: 603780
Polymorphism
C/T, Transition 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 3158 Intron NP_612440.1
XM_011516806.2 3158 Intron XP_011515108.1
XM_017013005.1 3158 Intron 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 3158 Missense Mutation GAC,GGC D1105G NP_004251.3
XM_011517384.2 3158 Missense Mutation GAC,GGC D1039G XP_011515686.1
XM_017013991.1 3158 Missense Mutation GAC,GGC D1160G XP_016869480.1
XM_017013992.1 3158 Missense Mutation GAC,GGC D1135G XP_016869481.1
XM_017013993.1 3158 Missense Mutation GAC,GGC D1130G XP_016869482.1
XM_017013994.1 3158 Missense Mutation GAC,GGC D1128G XP_016869483.1
XM_017013995.1 3158 Missense Mutation GAC,GGC D1105G XP_016869484.1
XM_017013996.1 3158 Missense Mutation GAC,GGC D1160G XP_016869485.1
XM_017013997.1 3158 Missense Mutation GAC,GGC D1094G XP_016869486.1
XM_017013998.1 3158 Missense Mutation GAC,GGC D1135G XP_016869487.1
XM_017013999.1 3158 Missense Mutation GAC,GGC D1064G XP_016869488.1
XM_017014000.1 3158 Missense Mutation GAC,GGC D781G XP_016869489.1
XM_017014001.1 3158 Missense Mutation GAC,GGC D751G XP_016869490.1

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