Product Details

SNP ID
rs189493754
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43645248 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCGGGTTCTCTTCTGGGGCCGCAT[C/G]CTTGGCCTCGTCGCCGATTACTACA
Phenotype
MIM: 612648
Polymorphism
C/G, Transversion 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_001193341.1 219 Missense Mutation ATC,ATG I50M NP_001180270.1
NM_152732.4 219 Missense Mutation ATC,ATG I50M NP_689945.2
XM_005248901.3 219 Missense Mutation ATC,ATG I50M XP_005248958.1
XM_006715014.1 219 Missense Mutation ATC,ATG I50M XP_006715077.1
XM_017010426.1 219 Missense Mutation ATC,ATG I50M XP_016865915.1

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