Product Details

SNP ID

rs149723586

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43636531 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGGTGTTTCCTGGGCCTGTGAGCC[A/G]GGAAGGCTGCTGTCAGTTTACTTGT

Phenotype

MIM: 607434 MIM: 612648

Polymorphism

A/G, 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	233	Missense Mutation	CAG,CGG	Q98R	NP_001003690.1
NM_014628.2	233	Missense Mutation	CAG,CGG	Q66R	NP_055443.1

Gene

RSPH9

Gene Name

radial spoke head 9 homolog

There are no transcripts associated with this gene.

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