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SNP ID

rs201454152

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43640048 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGGAGATGCTGAAGAAGAAACCT[C/T]GGGCCACCACTGAGGTGAGCAGCAG

Phenotype

MIM: 612648

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAD2L1BP PubMed Links

Gene Details

Gene

MAD2L1BP

Gene Name

MAD2L1 binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003690.1	376	Missense Mutation	CGG,TGG	R146W	NP_001003690.1
NM_014628.2	376	Missense Mutation	CGG,TGG	R114W	NP_055443.1

Gene

RSPH9

Gene Name

radial spoke head 9 homolog

There are no transcripts associated with this gene.

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