Product Details

SNP ID

rs2307458

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43582472 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGTGGTGGGTATGTATCATTGTT[A/T]TTGTCACAACTATTCAATGGTAACA

Phenotype

MIM: 603968 MIM: 607845

Polymorphism

A/T, 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		Intron			NP_001278898.1
NM_001291970.1		Intron			NP_001278899.1
NM_006502.2		Intron			NP_006493.1
XM_005249186.3		Intron			XP_005249243.1
XM_011514698.2		Intron			XP_011513000.1

Gene

XPO5

Gene Name

exportin 5

There are no transcripts associated with this gene.

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