Product Details

SNP ID
rs11556834
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:51155744 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGAGATTATCAAGCGTTTTGAGCA[C/G]AAAGGATTCCGCCTTGTTGGTCTGA
Phenotype
MIM: 156490 MIM: 156491
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
NME1 PubMed Links

Gene Details

Gene
NME1
Gene Name
NME/NM23 nucleoside diphosphate kinase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000269.2 221 Missense Mutation CAC,CAG H30Q NP_000260.1
NM_198175.1 221 Missense Mutation CAC,CAG H55Q NP_937818.1
Gene
NME1-NME2
Gene Name
NME1-NME2 readthrough
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001018136.2 221 Missense Mutation CAC,CAG H30Q NP_001018146.1
Gene
NME2
Gene Name
NME/NM23 nucleoside diphosphate kinase 2
There are no transcripts associated with this gene.

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