Product Details

SNP ID

rs112666836

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:151518765 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGTGACTCCTTTGGGGTCCAAAT[C/T]AAGGGGGCCAATGACCAAGGGGCCT

Phenotype

MIM: 609473

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CGN PubMed Links

Gene Details

Gene

CGN

Gene Name

cingulin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020770.2	390	Silent Mutation	ATC,ATT	I82I	NP_065821.1
XM_005245365.4	390	Missense Mutation	ATC,ATT	I82I	XP_005245422.1

View Full Product Details