Product Details

SNP ID

rs139257971

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:21960381 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTTGGTGGGCTTGAGCCGGCGCC[C/T]GCTCTCCACCGTGACATAGTTGCGC

Phenotype

MIM: 603582

Polymorphism

C/T, 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	1847	Missense Mutation	AGG,GGG	R532G	NP_001269041.1
NM_001282113.1	1847	Missense Mutation	AGG,GGG	R532G	NP_001269042.1
NM_003935.4	1847	Missense Mutation	AGG,GGG	R532G	NP_003926.1
XM_005261811.1	1847	Missense Mutation	AGG,GGG	R532G	XP_005261868.1
XM_005261813.2	1847	Missense Mutation	AGG,GGG	R396G	XP_005261870.1
XM_006724349.1	1847	Missense Mutation	AGG,GGG	R532G	XP_006724412.1
XM_006724350.1	1847	Missense Mutation	AGG,GGG	R532G	XP_006724413.1
XM_011530482.1	1847	Missense Mutation	AGG,GGG	R532G	XP_011528784.1
XM_017029038.1	1847	Missense Mutation	AGG,GGG	R532G	XP_016884527.1
XM_017029039.1	1847	Missense Mutation	AGG,GGG	R396G	XP_016884528.1
XM_017029040.1	1847	Missense Mutation	AGG,GGG	R396G	XP_016884529.1
XM_017029041.1	1847	Missense Mutation	AGG,GGG	R396G	XP_016884530.1

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