Product Details

SNP ID

rs2232218

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43621640 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGAAGCCCATGTTGGCCTGGGCTT[A/C]TCCTGCTGTAATGGCTTGTACATCA

Phenotype

MIM: 607434 MIM: 603968

Polymorphism

A/C, Transversion 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	1867	Nonsense Mutation	GAA,TAA	E507*	NP_001273145.1
NM_019096.4	1867	Nonsense Mutation	GAA,TAA	E595*	NP_061969.3
XM_017010976.1	1867	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.

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