Product Details

SNP ID: rs58284890
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.6:43629979 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TAAACCAGCTTCCTCCCCGAAGGCT[A/G]CAAGCATACCCAAAGCGAGTATTCC
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		Intron			NP_001273145.1
NM_019096.4		Intron			NP_061969.3
XM_017010976.1		Intron			XP_016866465.1

Gene: MAD2L1BP
Gene Name: MAD2L1 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003690.1		Intron			NP_001003690.1
NM_014628.2		Intron			NP_055443.1

Gene: POLH
Gene Name: DNA polymerase eta

There are no transcripts associated with this gene.

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