Product Details

SNP ID
rs11188019
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.10:94554203 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
AACATTTGCTTGAAAAAAGCAATAT[A/C]TACTCCAAATTTTTATTGACGAAAA
Phenotype
MIM: 603946
Polymorphism
A/C, Transversion 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_001289067.1 386 Silent Mutation ATA,ATC I77I NP_001275996.1
NM_001289068.1 386 Silent Mutation ATA,ATC I61I NP_001275997.1
NM_001289069.1 386 Silent Mutation ATA,ATC I77I NP_001275998.1
NM_001289070.1 386 Silent Mutation ATA,ATC I77I NP_001275999.1
NM_001289071.1 386 UTR 5 NP_001276000.1
NM_001289072.1 386 Silent Mutation ATA,ATC I77I NP_001276001.1
NM_001289073.1 386 UTR 5 NP_001276002.1
NM_001289074.1 386 UTR 5 NP_001276003.1
NM_001289075.1 386 UTR 5 NP_001276004.1
NM_018063.4 386 Silent Mutation ATA,ATC I77I NP_060533.2

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