Product Details

SNP ID

rs201993908

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:30249081 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATAATGGGTTCCTGCTCTAACACA[C/G]CTAGCACCTCTTCAGGGACATGCTT

Phenotype

MIM: 602403

Polymorphism

C/G, Transversion 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	1651	Missense Mutation	GCT,GGT	A435G	NP_000377.1

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