Product Details

SNP ID
rs61747479
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.13:100532167 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGGGGGTTGTAGCGCAGCCCGTGC[A/G]GCCCCTCGGAGTCGTAGCTGTCATG
Phenotype
MIM: 613378 MIM: 232000
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GGACT PubMed Links

Gene Details

Gene
GGACT
Gene Name
gamma-glutamylamine cyclotransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001195087.1 776 Missense Mutation CCG,CTG P142L NP_001182016.1
NM_033110.2 776 Missense Mutation CCG,CTG P142L NP_149101.1
XM_005254083.2 776 Missense Mutation CCG,CTG P142L XP_005254140.1
XM_011521129.2 776 Missense Mutation CCG,CTG P142L XP_011519431.1
XM_017020804.1 776 Missense Mutation CCG,CTG P142L XP_016876293.1
Gene
PCCA
Gene Name
propionyl-CoA carboxylase alpha subunit
There are no transcripts associated with this gene.

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