Product Details

SNP ID
rs199742593
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:55268021 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCGGTCATGGACCTCAGCAGCC[A/G]GGCCTCTGCACCCCTTCACCCTGGC
Phenotype
MIM: 142385
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HLF PubMed Links

Gene Details

Gene
HLF
Gene Name
HLF, PAR bZIP transcription factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_002126.4 365 Missense Mutation CAG,CGG Q129R NP_002117.1
XM_005257269.2 365 Missense Mutation CAG,CGG Q129R XP_005257326.1
XM_011524705.1 365 Missense Mutation CAG,CGG Q44R XP_011523007.1
XM_017024556.1 365 Missense Mutation CAG,CGG Q44R XP_016880045.1

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