Product Details

SNP ID
rs200120685
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:55174747 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGAATACCTGCACCCGAAAGAATAT[A/G]AGTGGGTCCTGATCGCCGGGTACAT
Phenotype
MIM: 602393
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
HCRTR2 PubMed Links

Gene Details

Gene
HCRTR2
Gene Name
hypocretin receptor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001526.3 475 Missense Mutation AAG,GAG K54E NP_001517.2
XM_017010798.1 475 Missense Mutation AAG,GAG K54E XP_016866287.1

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