Product Details

SNP ID: rs144588722
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:27381615 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGATGACTGCTAGTCTCGCTTGGCC[G/T]TCTTCTTCTTGTCGCTGTTGCCATT
Phenotype: MIM: 605119 MIM: 605963 MIM: 613598
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: PPM1G PubMed Links

Gene Details

Gene: PPM1G
Gene Name: protein phosphatase, Mg2+/Mn2+ dependent 1G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_177983.2	1886	Missense Mutation	AAG,ACG	K542T	NP_817092.1

Gene: SNX17
Gene Name: sorting nexin 17

There are no transcripts associated with this gene.

Gene: ZNF513
Gene Name: zinc finger protein 513

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001201459.1	1886	Intron			NP_001188388.1
NM_144631.5	1886	Intron			NP_653232.3
XM_005264142.2	1886	Intron			XP_005264199.1
XM_005264143.3	1886	Intron			XP_005264200.1

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