Product Details

SNP ID

rs139027575

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:47663010 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTAAAAGTCTTCTTTCTTTCAACAT[A/C]AATACTAAAAATACATACATACCCT

Phenotype

MIM: 611477

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

RPAP3 PubMed Links

Gene Details

Gene

RPAP3

Gene Name

RNA polymerase II associated protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146075.1	2507	UTR 3			NP_001139547.1
NM_001146076.1	2507	UTR 3			NP_001139548.1
NM_024604.2	2507	UTR 3			NP_078880.2
XM_011538741.2	2507	UTR 3			XP_011537043.1

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