Product Details

SNP ID

rs180814073

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:19985462 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCTCTGGAGCCAGCCAGTAAAGCA[C/G]CATTTACAAGTTCATGGCTAACATA

Phenotype

MIM: 179512

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PP2D1 PubMed Links

Gene Details

Gene

PP2D1

Gene Name

protein phosphatase 2C like domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001252657.1	2012	Missense Mutation	GCT,GGT	A604G	NP_001239586.1

Gene

RAB5A

Gene Name

RAB5A, member RAS oncogene family

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001292048.1	2012	Intron			NP_001278977.1
NM_004162.4	2012	Intron			NP_004153.2

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