Product Details

SNP ID

rs111551836

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43636576 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTTGTGAACTTCTAAAGCATATCA[C/T]GTATCAACGCCAGCAGCTCCCTCTG

Phenotype

MIM: 607434 MIM: 612648

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GTPBP2 PubMed Links

Gene Details

Gene

GTPBP2

Gene Name

GTP binding protein 2

There are no transcripts associated with this gene.

Gene

MAD2L1BP

Gene Name

MAD2L1 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003690.1	278	Missense Mutation	ACG,ATG	T113M	NP_001003690.1
NM_014628.2	278	Missense Mutation	ACG,ATG	T81M	NP_055443.1

Gene

RSPH9

Gene Name

radial spoke head 9 homolog

There are no transcripts associated with this gene.

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