Product Details

SNP ID
rs79523510
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:102873184 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGACTTTTATTCATGGCTACATT[G/T]AGAAGTTGGGAGAGGCTGGAATCAA
Phenotype
MIM: 611806 MIM: 616600
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
AS3MT PubMed Links

Gene Details

Gene
AS3MT
Gene Name
arsenite methyltransferase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020682.3 549 Nonsense Mutation GAG,TAG E137* NP_065733.2
Gene
BORCS7
Gene Name
BLOC-1 related complex subunit 7
There are no transcripts associated with this gene.

Gene
BORCS7-ASMT
Gene Name
BORCS7-ASMT readthrough (NMD candidate)
There are no transcripts associated with this gene.

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