Product Details

SNP ID

rs191465188

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43621716 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCTCCCGGAACAGCAGTTTGGC[A/G]CCCACCTTCAGGTACTCTGGGTGTT

Phenotype

MIM: 607434 MIM: 603968

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GTPBP2 PubMed Links

Gene Details

Gene

GTPBP2

Gene Name

GTP binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286216.1	1791	Silent Mutation	GGC,GGT	G481G	NP_001273145.1
NM_019096.4	1791	Silent Mutation	GGC,GGT	G569G	NP_061969.3
XM_017010976.1	1791	Intron			XP_016866465.1

Gene

MAD2L1BP

Gene Name

MAD2L1 binding protein

There are no transcripts associated with this gene.

Gene

POLH

Gene Name

DNA polymerase eta

There are no transcripts associated with this gene.

View Full Product Details