Product Details

SNP ID
rs181070246
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:18928107 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTTTTCTGAATCATCTACAGAA[A/T]GATGGCTGCTCTGCTGAGAGCCTGC
Phenotype
MIM: 616292
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SAXO1 PubMed Links

Gene Details

Gene
SAXO1
Gene Name
stabilizer of axonemal microtubules 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001287049.1 1656 Missense Mutation CAT,CTT H392L NP_001273978.1
NM_001287050.1 1656 UTR 3 NP_001273979.1
NM_153707.3 1656 Missense Mutation CAT,CTT H457L NP_714918.2
XM_011517744.1 1656 Missense Mutation CAT,CTT H481L XP_011516046.1
XM_011517745.1 1656 Missense Mutation CAT,CTT H462L XP_011516047.1
XM_011517746.2 1656 Missense Mutation CAT,CTT H462L XP_011516048.1
XM_011517747.2 1656 Missense Mutation CAT,CTT H395L XP_011516049.1
XM_017014314.1 1656 Missense Mutation CAT,CTT H462L XP_016869803.1
XM_017014315.1 1656 Missense Mutation CAT,CTT H392L XP_016869804.1

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