Product Details

SNP ID

rs138792608

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:64769166 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCAAGATGAGCAACATCTACATCC[A/C]GGAGCCTCCCACGAATGGGAAGGTG

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CWC27 PubMed Links

Gene Details

Gene

CWC27

Gene Name

CWC27 spliceosome associated protein homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297644.1	249	Missense Mutation	CAG,CCG	Q7P	NP_001284573.1
NM_001297645.1	249	Missense Mutation	CAG,CCG	Q7P	NP_001284574.1
NM_001318000.1	249	Missense Mutation	CAG,CCG	Q7P	NP_001304929.1
NM_005869.3	249	Missense Mutation	CAG,CCG	Q7P	NP_005860.2
XM_011543095.2	249	Missense Mutation	CAG,CCG	Q7P	XP_011541397.2
XM_011543096.1	249	Missense Mutation	CAG,CCG	Q7P	XP_011541398.1
XM_017008943.1	249	Missense Mutation	CAG,CCG	Q7P	XP_016864432.1

Gene

SREK1IP1

Gene Name

SREK1 interacting protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173829.3	249	Intron			NP_776190.1
XM_011543344.2	249	Intron			XP_011541646.1

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