Product Details

SNP ID

rs35110984

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:43650410 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

ACAGAGTGGAGCCTCTTGCCCCCTG[C/T]CACAGAGGAGATGGTGGCGCAGTCG

Phenotype

MIM: 612648

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

MAD2L1BP PubMed Links

Gene Details

Gene

MAD2L1BP

Gene Name

MAD2L1 binding protein

There are no transcripts associated with this gene.

Gene

RSPH9

Gene Name

radial spoke head 9 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193341.1	332	Missense Mutation	GCC,GTC	A88V	NP_001180270.1
NM_152732.4	332	Missense Mutation	GCC,GTC	A88V	NP_689945.2
XM_005248901.3	332	Missense Mutation	GCC,GTC	A88V	XP_005248958.1
XM_006715014.1	332	Intron			XP_006715077.1
XM_017010426.1	332	Missense Mutation	GCC,GTC	A88V	XP_016865915.1

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