Product Details

SNP ID

rs147465744

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:46744249 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTTTGGAGAGCAAAGAGGTCAAA[C/G]GAGGTCGGTCATCTTGCTATTGAGA

Phenotype

MIM: 611142 MIM: 176930

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CKAP5 PubMed Links

Gene Details

Gene

CKAP5

Gene Name

cytoskeleton associated protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001008938.3	5999	Missense Mutation	CCT,CGT	P1958R	NP_001008938.1
NM_014756.3	5999	Missense Mutation	CCT,CGT	P1898R	NP_055571.2

Gene

F2

Gene Name

coagulation factor II, thrombin

There are no transcripts associated with this gene.

Gene

MIR5582

Gene Name

microRNA 5582

There are no transcripts associated with this gene.

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