Product Details

SNP ID

rs115679864

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:1395800 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTACTCATGGTGGCTTTTTAATAC[A/G]TTTTTATGTCAAGGATCCCTTTTAT

Phenotype

MIM: 610203 MIM: 614632

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CRIPAK PubMed Links

Gene Details

Gene

CRIPAK

Gene Name

cysteine rich PAK1 inhibitor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_175918.3	4249	Missense Mutation	CAT,CGT	H430R	NP_787114.2

Gene

NKX1-1

Gene Name

NK1 homeobox 1

There are no transcripts associated with this gene.

Gene

UVSSA

Gene Name

UV stimulated scaffold protein A

There are no transcripts associated with this gene.

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