Product Details

SNP ID

rs75766796

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:54399973 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGAACAGACTCCAATTCATATAT[C/T]ATGGTATGTTAGCATTTCTGATCAA

Phenotype

MIM: 123832

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CDKN3 PubMed Links

Gene Details

Gene

CDKN3

Gene Name

cyclin dependent kinase inhibitor 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130851.1	219	Intron			NP_001124323.1
NM_005192.3	219	Missense Mutation	TCA,TTA	S30L	NP_005183.2
XM_011536353.2	219	Missense Mutation	TCA,TTA	S30L	XP_011534655.1

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