Product Details

SNP ID
rs186236478
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.9:128634288 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGGACCAGCGCACAGCAAACAGA[C/T]ACTTGAGGGAGAGCTGCAGCGAAGT
Phenotype
MIM: 182810 MIM: 613363
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
SPTAN1 PubMed Links

Gene Details

Gene
SPTAN1
Gene Name
spectrin alpha, non-erythrocytic 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130438.2 1434 Intron NP_001123910.1
NM_001195532.1 1434 Intron NP_001182461.1
NM_003127.3 1434 Intron NP_003118.2
XM_006717245.1 1434 Intron XP_006717308.1
XM_006717246.1 1434 Intron XP_006717309.1
XM_006717247.2 1434 Intron XP_006717310.1
XM_006717248.2 1434 Intron XP_006717311.1
XM_006717249.1 1434 Intron XP_006717312.1
XM_006717250.1 1434 Intron XP_006717313.1
XM_006717251.2 1434 Intron XP_006717314.1
XM_006717252.2 1434 Intron XP_006717315.1
XM_006717253.1 1434 Intron XP_006717316.1
XM_006717254.2 1434 Intron XP_006717317.1
XM_017015059.1 1434 Intron XP_016870548.1
XM_017015060.1 1434 Intron XP_016870549.1
XM_017015061.1 1434 Intron XP_016870550.1
Gene
WDR34
Gene Name
WD repeat domain 34
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_052844.3 1434 Missense Mutation TAT,TGT Y437C NP_443076.2
XM_011519179.2 1434 Missense Mutation TAT,TGT Y409C XP_011517481.1

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