Product Details

SNP ID

rs182126192

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:69195719 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTTGCTCATGTTTCTTTGATAGTA[A/T]AATTGAAGACCTGGAAAATGAAATT

Phenotype

MIM: 605607

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CENPH PubMed Links

Gene Details

Gene

CENPH

Gene Name

centromere protein H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022909.3	329	Missense Mutation	AAA,ATA	K81I	NP_075060.1

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