Product Details

SNP ID

rs6433818

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:179945537 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TTATAGGATCTCTCCAATTTGAACC[A/T]CTTGAATTTTGATCTCTGTGTTTTT

Phenotype

MIM: 615186

Polymorphism

A/T, 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	2619	Missense Mutation	AGA,AGT	R773S	NP_065994.1
XM_005246726.2	2619	Missense Mutation	AGA,AGT	R773S	XP_005246783.1

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