Product Details

SNP ID
rs193008106
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:30249155 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATACTCAGAGAACCACTCATCTGT[C/T]ATGCACAGGTAACCTGGAGAAAAGA
Phenotype
MIM: 602403
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
BLMH PubMed Links

Gene Details

Gene
BLMH
Gene Name
bleomycin hydrolase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000386.3 1577 Missense Mutation ATA,ATG I410M NP_000377.1

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