Product Details

SNP ID
rs143388851
Assay Type
Functionally tested
NCBI dbSNP Submissions
13
Location
Chr.1:231241443 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCCCAACCAGTCCCAGCGCTGTCG[C/T]GCTCCTCTACTCGGTAGGCGCCCAG
Phenotype
MIM: 602744
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
C1orf131 PubMed Links

Gene Details

Gene
C1orf131
Gene Name
chromosome 1 open reading frame 131
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001300830.1 271 Intron NP_001287759.1
NM_152379.3 271 Intron NP_689592.2
Gene
GNPAT
Gene Name
glyceronephosphate O-acyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001316350.1 271 Missense Mutation GCG,GTG A22V NP_001303279.1
NM_014236.3 271 Missense Mutation GCG,GTG A22V NP_055051.1
XM_005273313.4 271 Missense Mutation GCG,GTG A22V XP_005273370.1
XM_011544303.2 271 UTR 5 XP_011542605.1
XM_011544304.2 271 UTR 5 XP_011542606.1

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