Product Details

SNP ID
rs144874149
Assay Type
Functionally tested
NCBI dbSNP Submissions
14
Location
Chr.1:31632519 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCTTGCTGCAGCTCTGTGTAGCTAA[C/T]GGAGCCCGAGCGGTCCCGGTCATAC
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_001525.2 943 Intron NP_001516.2
XM_017001105.1 943 Intron XP_016856594.1
XM_017001106.1 943 Intron XP_016856595.1
XM_017001107.1 943 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_012392.3 943 Missense Mutation ATT,GTT I201V NP_036524.1
XM_011541745.1 943 Missense Mutation ATT,GTT I196V XP_011540047.1
XM_011541746.2 943 Missense Mutation ATT,GTT I131V XP_011540048.1
XM_011541747.1 943 Missense Mutation ATT,GTT I131V XP_011540049.1
XM_017001680.1 943 Missense Mutation ATT,GTT I131V XP_016857169.1
XM_017001681.1 943 Intron XP_016857170.1

View Full Product Details