Product Details

SNP ID
rs201754257
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:149039113 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAAACCAACTCCACCTGCTTTTAAG[C/G]ACAGAAGCATTATAGTTGGAGATCC
Phenotype
MIM: 603257
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
HLTF PubMed Links

Gene Details

Gene
HLTF
Gene Name
helicase like transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001318934.1 2947 Missense Mutation TCC,TGC S910C NP_001305863.1
NM_001318935.1 2947 Missense Mutation TCC,TGC S911C NP_001305864.1
NM_003071.3 2947 Missense Mutation TCC,TGC S911C NP_003062.2
NM_139048.2 2947 Missense Mutation TCC,TGC S911C NP_620636.1
XM_011513091.1 2947 Missense Mutation TCC,TGC S915C XP_011511393.1
XM_011513092.1 2947 Missense Mutation TCC,TGC S915C XP_011511394.1
XM_011513093.1 2947 Missense Mutation TCC,TGC S914C XP_011511395.1
XM_017007078.1 2947 Missense Mutation TCC,TGC S914C XP_016862567.1
XM_017007079.1 2947 Missense Mutation TCC,TGC S910C XP_016862568.1

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