Product Details

SNP ID
rs3177328
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:43645291 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTACTACATCGCGCAGGGCCTGAGT[A/G]AGGACCAGCTCGCACCGCGCAAGAC
Phenotype
MIM: 612648
Polymorphism
A/G, 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_001193341.1 262 Missense Mutation AAG,GAG K65E NP_001180270.1
NM_152732.4 262 Missense Mutation AAG,GAG K65E NP_689945.2
XM_005248901.3 262 Missense Mutation AAG,GAG K65E XP_005248958.1
XM_006715014.1 262 Missense Mutation AAG,GAG K65E XP_006715077.1
XM_017010426.1 262 Missense Mutation AAG,GAG K65E XP_016865915.1

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