Product Details

SNP ID
rs1127927
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:129096113 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCTTCAGGCCCAGCAGGTGTCGA[C/T]CAAAGGCCTCCCCGCGGATGGCCTG
Phenotype
MIM: 600184 MIM: 614516
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
CRAT PubMed Links

Gene Details

Gene
CRAT
Gene Name
carnitine O-acetyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000755.3 1931 Missense Mutation GAT,GGT D517G NP_000746.2
NM_001257363.1 1931 Missense Mutation GAT,GGT D496G NP_001244292.1
XM_005251708.3 1931 Missense Mutation GAT,GGT D496G XP_005251765.1
XM_017014274.1 1931 Missense Mutation GAT,GGT D518G XP_016869763.1
XM_017014275.1 1931 Missense Mutation GAT,GGT D518G XP_016869764.1
Gene
DOLPP1
Gene Name
dolichyldiphosphatase 1
There are no transcripts associated with this gene.

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