Product Details

SNP ID
rs201789608
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:187346321 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTTGACACTGTGTAAGACGCACTAC[A/G]AAGAGCTTCTGAGTTGGAAAAGCTG
Phenotype
MIM: 114190
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
CALCRL PubMed Links

Gene Details

Gene
CALCRL
Gene Name
calcitonin receptor like receptor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001271751.1 1713 Missense Mutation CGT,TGT R417C NP_001258680.1
NM_005795.5 1713 Missense Mutation CGT,TGT R417C NP_005786.1
XM_005246231.3 1713 Missense Mutation CGT,TGT R428C XP_005246288.2
XM_005246232.3 1713 Missense Mutation CGT,TGT R428C XP_005246289.2
XM_005246234.3 1713 Missense Mutation CGT,TGT R428C XP_005246291.2
XM_017003151.1 1713 Missense Mutation CGT,TGT R428C XP_016858640.1

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