Product Details

SNP ID
rs138189710
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:31635232 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGATTACTACTTACCCTGTCCATA[A/T]AGCCCAGGCTGCTGGGCACCGTAGG
Phenotype
MIM: 602392 MIM: 610033
Polymorphism
A/T, Transversion 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_012392.3 657 Silent Mutation CTA,CTT L105L NP_036524.1
XM_011541745.1 657 Silent Mutation CTA,CTT L100L XP_011540047.1
XM_011541746.2 657 Silent Mutation CTA,CTT L35L XP_011540048.1
XM_011541747.1 657 Silent Mutation CTA,CTT L35L XP_011540049.1
XM_017001680.1 657 Silent Mutation CTA,CTT L35L XP_016857169.1
XM_017001681.1 657 Intron XP_016857170.1

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