Product Details

SNP ID

rs200895740

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:179950598 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGCTATCACTGCTGTCAGAATCA[C/G]AGTCGGATGAGTCAGACTCTGAAGA

Phenotype

MIM: 615186

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CWC22 PubMed Links

Gene Details

Gene

CWC22

Gene Name

CWC22 homolog, spliceosome-associated protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020943.2	2354	Missense Mutation	TCT,TGT	S685C	NP_065994.1
XM_005246726.2	2354	Missense Mutation	TCT,TGT	S685C	XP_005246783.1

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