Product Details

SNP ID
rs58643119
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:94554242 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATTGACGAAAATGGAACAGCAACA[A/G]TTAGAGGTATGTATATGTAACTGAC
Phenotype
MIM: 603946
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HELLS PubMed Links

Gene Details

Gene
HELLS
Gene Name
helicase, lymphoid-specific
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001289067.1 425 Silent Mutation CAA,CAG Q90Q NP_001275996.1
NM_001289068.1 425 Silent Mutation CAA,CAG Q74Q NP_001275997.1
NM_001289069.1 425 Silent Mutation CAA,CAG Q90Q NP_001275998.1
NM_001289070.1 425 Silent Mutation CAA,CAG Q90Q NP_001275999.1
NM_001289071.1 425 UTR 5 NP_001276000.1
NM_001289072.1 425 Silent Mutation CAA,CAG Q90Q NP_001276001.1
NM_001289073.1 425 UTR 5 NP_001276002.1
NM_001289074.1 425 UTR 5 NP_001276003.1
NM_001289075.1 425 UTR 5 NP_001276004.1
NM_018063.4 425 Silent Mutation CAA,CAG Q90Q NP_060533.2

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