Product Details

SNP ID

rs189835199

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43576347 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGCTCCTAGAAAGGCGAAAAGAT[A/C]TTCAGGAGCCCTTCCATTTTCCTTC

Phenotype

MIM: 603968 MIM: 607845

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

POLH PubMed Links

Gene Details

Gene

POLH

Gene Name

DNA polymerase eta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001291969.1	201	UTR 5			NP_001278898.1
NM_001291970.1	201	UTR 5			NP_001278899.1
NM_006502.2	201	UTR 5			NP_006493.1
XM_005249186.3	201	UTR 5			XP_005249243.1
XM_011514698.2	201	UTR 5			XP_011513000.1

Gene

XPO5

Gene Name

exportin 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020750.2	201	Intron			NP_065801.1

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