Product Details

SNP ID

rs200055675

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:24790548 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAATGTTCTTCTGTTGCAGGGTCT[C/T]GGCCAGCTCCTTTAGGGTGGTCTCA

Phenotype

MIM: 611504

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CENPO PubMed Links

Gene Details

Gene

CENPO

Gene Name

centromere protein O

There are no transcripts associated with this gene.

Gene

PTRHD1

Gene Name

peptidyl-tRNA hydrolase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001013663.1	291	Missense Mutation	AAG,GAG	K96E	NP_001013685.1

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