Product Details

SNP ID
rs144042113
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:100632492 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTAACTACAAAAACTTACTTGGAAG[C/T]AAGCAACTCCAAAGGAAATTCCTGC
Phenotype
MIM: 300191
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
TSPAN6 PubMed Links

Gene Details

Gene
TSPAN6
Gene Name
tetraspanin 6
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001278740.1 1117 Missense Mutation TAC,TGC Y133C NP_001265669.1
NM_001278741.1 1117 Missense Mutation TAC,TGC Y133C NP_001265670.1
NM_001278742.1 1117 Missense Mutation TAC,TGC Y133C NP_001265671.1
NM_001278743.1 1117 Intron NP_001265672.1
NM_003270.3 1117 Missense Mutation TAC,TGC Y221C NP_003261.1
XM_011531018.1 1117 Missense Mutation TAC,TGC Y133C XP_011529320.1

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