Product Details

SNP ID
rs143859234
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:70411430 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGCGGTTCAGCATGCAGGAAAAAGA[A/C]GCCTCCTCACAAGGTTTCCTGCCAC
Phenotype
MIM: 607657
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
CTH PubMed Links

Gene Details

Gene
CTH
Gene Name
cystathionine gamma-lyase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001190463.1 213 Missense Mutation GAA,GAC E5D NP_001177392.1
NM_001902.5 213 Missense Mutation GAA,GAC E5D NP_001893.2
NM_153742.4 213 Missense Mutation GAA,GAC E5D NP_714964.2
XM_005270509.3 213 UTR 5 XP_005270566.1
XM_017000416.1 213 Intron XP_016855905.1

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