Product Details

SNP ID
rs2286145
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119616622 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTGGTGTATGTGTGTGTGCTTGCAG[A/T]TTGAGGGGAGAGGAAATTGGTTGAT
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 3563 Intron NP_055944.2
NM_145799.3 3563 Intron NP_665798.1
NM_145800.3 3563 UTR 3 NP_665799.1
NM_145802.3 3563 UTR 3 NP_665801.1
XM_005262400.3 3563 UTR 3 XP_005262457.1
XM_006724748.2 3563 UTR 3 XP_006724811.1
XM_006724750.2 3563 UTR 3 XP_006724813.1
XM_011531317.2 3563 Missense Mutation AAC,ATC N488I XP_011529619.1
XM_011531318.2 3563 UTR 3 XP_011529620.1

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