Product Details

SNP ID

rs189944999

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:21958681 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATCGCAGTGGGAGCAGTGCAGGC[A/G]GCTTGGCTTGGCCTGCGGCAATGCC

Phenotype

MIM: 603582

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PPM1F PubMed Links

Gene Details

Gene

PPM1F

Gene Name

protein phosphatase, Mg2+/Mn2+ dependent 1F

There are no transcripts associated with this gene.

Gene

TOP3B

Gene Name

topoisomerase (DNA) III beta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282112.1	2171	Missense Mutation	CGC,TGC	R640C	NP_001269041.1
NM_001282113.1	2171	Missense Mutation	CGC,TGC	R640C	NP_001269042.1
NM_003935.4	2171	Missense Mutation	CGC,TGC	R640C	NP_003926.1
XM_005261811.1	2171	Missense Mutation	CGC,TGC	R640C	XP_005261868.1
XM_005261813.2	2171	Missense Mutation	CGC,TGC	R504C	XP_005261870.1
XM_006724349.1	2171	Missense Mutation	CGC,TGC	R640C	XP_006724412.1
XM_006724350.1	2171	Missense Mutation	CGC,TGC	R640C	XP_006724413.1
XM_011530482.1	2171	Missense Mutation	CGC,TGC	R640C	XP_011528784.1
XM_017029038.1	2171	Missense Mutation	CGC,TGC	R640C	XP_016884527.1
XM_017029039.1	2171	Missense Mutation	CGC,TGC	R504C	XP_016884528.1
XM_017029040.1	2171	Missense Mutation	CGC,TGC	R504C	XP_016884529.1
XM_017029041.1	2171	Missense Mutation	CGC,TGC	R504C	XP_016884530.1

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