Product Details

SNP ID
rs145077126
Assay Type
Functionally tested
NCBI dbSNP Submissions
12
Location
Chr.1:31635278 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAGGAACTTGGAGGTGGCTGACCA[C/T]AGGGGCCCCCGGGAGCTGCACCGCC
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
There are no transcripts associated with this gene.

Gene
PEF1
Gene Name
penta-EF-hand domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_012392.3 611 Missense Mutation TAT,TGT Y90C NP_036524.1
XM_011541745.1 611 Missense Mutation TAT,TGT Y85C XP_011540047.1
XM_011541746.2 611 Missense Mutation TAT,TGT Y20C XP_011540048.1
XM_011541747.1 611 Missense Mutation TAT,TGT Y20C XP_011540049.1
XM_017001680.1 611 Missense Mutation TAT,TGT Y20C XP_016857169.1
XM_017001681.1 611 Intron XP_016857170.1

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