Product Details

SNP ID

rs147886592

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:47961593 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCACCTCCACGGGGGAGTTGCAG[C/T]CGATGCCAACCTCGCCTGGAGTGGA

Phenotype

MIM: 602638 MIM: 600899

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MCM4 PubMed Links

Gene Details

Gene

MCM4

Gene Name

minichromosome maintenance complex component 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005914.3	1090	Missense Mutation	CCG,TCG	P50S	NP_005905.2
NM_182746.2	1090	Missense Mutation	CCG,TCG	P50S	NP_877423.1

Gene

PRKDC

Gene Name

protein kinase, DNA-activated, catalytic polypeptide

There are no transcripts associated with this gene.

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