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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