Product Details

SNP ID
rs146006007
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:31630695 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCCTTGTACAGCTGTGTCCTTCTCC[C/T]GGAAGGCCTCTGTCAGCACCTGCAG
Phenotype
MIM: 602392 MIM: 610033
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
HCRTR1 PubMed Links

Gene Details

Gene
HCRTR1
Gene Name
hypocretin receptor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001525.2 1115 Intron NP_001516.2
XM_017001105.1 1115 Intron XP_016856594.1
XM_017001106.1 1115 Intron XP_016856595.1
XM_017001107.1 1115 Intron XP_016856596.1
Gene
PEF1
Gene Name
penta-EF-hand domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012392.3 1115 Missense Mutation CAG,CGG Q258R NP_036524.1
XM_011541745.1 1115 Missense Mutation CAG,CGG Q253R XP_011540047.1
XM_011541746.2 1115 Missense Mutation CAG,CGG Q188R XP_011540048.1
XM_011541747.1 1115 Missense Mutation CAG,CGG Q188R XP_011540049.1
XM_017001680.1 1115 Missense Mutation CAG,CGG Q188R XP_016857169.1
XM_017001681.1 1115 Intron XP_016857170.1

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