Product Details

SNP ID
rs187932850
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119629416 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCCGTCTTTCTTTGCTTGAAAGC[A/T]TTCACTTCATCATCCAGGGATTTCT
Phenotype
MIM: 300683
Polymorphism
A/T, Transversion substitution
Allele Nomenclature
Literature Links
SEPT6 PubMed Links

Gene Details

Gene
SEPT6
Gene Name
septin 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015129.5 1255 Missense Mutation AAA,AAT K394N NP_055944.2
NM_145799.3 1255 Missense Mutation AAA,AAT K394N NP_665798.1
NM_145800.3 1255 Missense Mutation AAA,AAT K394N NP_665799.1
NM_145802.3 1255 Missense Mutation AAA,AAT K394N NP_665801.1
XM_005262400.3 1255 Missense Mutation AAA,AAT K394N XP_005262457.1
XM_006724748.2 1255 Missense Mutation AAA,AAT K394N XP_006724811.1
XM_006724750.2 1255 Missense Mutation AAA,AAT K394N XP_006724813.1
XM_011531317.2 1255 Missense Mutation AAA,AAT K394N XP_011529619.1
XM_011531318.2 1255 Missense Mutation AAA,AAT K394N XP_011529620.1

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