Product Details

SNP ID

rs143920630

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:134738702 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAGGTCTGTCGGCTTCCCAGCGT[C/T]GGGCGGAGCTGCGTCGGAGAAAGCT

Phenotype

MIM: 601118

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CAMLG PubMed Links

Gene Details

Gene

CAMLG

Gene Name

calcium modulating ligand

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001745.3	776	Missense Mutation	CGG,TGG	R28W	NP_001736.1
XM_011543653.1	776	Missense Mutation	CGG,TGG	R28W	XP_011541955.1

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