Product Details

SNP ID
rs201953443
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:85550031 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATTCAGTTCTCCAACTGCCTCAAAG[G/T]GTCTCAAGTTTGCATAAGTCACCTC
Phenotype
MIM: 137167 MIM: 601468
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
GGCX PubMed Links

Gene Details

Gene
GGCX
Gene Name
gamma-glutamyl carboxylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000821.6 2102 Missense Mutation CAC,CCC H727P NP_000812.2
NM_001142269.3 2102 Missense Mutation CAC,CCC H670P NP_001135741.1
NM_001311312.1 2102 Intron NP_001298241.1
XM_005264259.4 2102 Missense Mutation CAC,CCC H725P XP_005264316.1
XM_011532764.2 2102 Missense Mutation CAC,CCC H453P XP_011531066.1
XM_011532765.2 2102 Missense Mutation CAC,CCC H453P XP_011531067.1
XM_017003803.1 2102 Missense Mutation CAC,CCC H668P XP_016859292.1
Gene
MAT2A
Gene Name
methionine adenosyltransferase 2A
There are no transcripts associated with this gene.

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