Product Details

SNP ID
rs191902224
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.22:37024342 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCCTGGTACCTGCCGAAGCTGGGG[A/C]GCGACGCGCGACGCGAGTTCGAGGA
Phenotype
MIM: 602496 MIM: 180370
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
MPST PubMed Links

Gene Details

Gene
MPST
Gene Name
mercaptopyruvate sulfurtransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001013436.2 284 Missense Mutation AGC,CGC S43R NP_001013454.1
NM_001130517.2 284 Missense Mutation AGC,CGC S43R NP_001123989.1
NM_021126.5 284 Missense Mutation AGC,CGC S63R NP_066949.2
XM_005261610.3 284 Missense Mutation AGC,CGC S43R XP_005261667.1
XM_011530195.1 284 Missense Mutation AGC,CGC S63R XP_011528497.1
XM_011530196.1 284 Missense Mutation AGC,CGC S43R XP_011528498.1
Gene
TST
Gene Name
thiosulfate sulfurtransferase
There are no transcripts associated with this gene.

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