Product Details

SNP ID
rs200051216
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:187346228 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTTTTAAGAGAACATTTTCAATAT[C/T]ATGGATGCTTTTTCCATTTAAGTGT
Phenotype
MIM: 114190
Polymorphism
C/T, 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 1806 Missense Mutation AAT,GAT N448D NP_001258680.1
NM_005795.5 1806 Missense Mutation AAT,GAT N448D NP_005786.1
XM_005246231.3 1806 Missense Mutation AAT,GAT N459D XP_005246288.2
XM_005246232.3 1806 Missense Mutation AAT,GAT N459D XP_005246289.2
XM_005246234.3 1806 Missense Mutation AAT,GAT N459D XP_005246291.2
XM_017003151.1 1806 Missense Mutation AAT,GAT N459D XP_016858640.1

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