Product Details

SNP ID
rs202179448
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:15283575 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGTGGATGGCTTGATGACATGCT[C/T]GACCGAGACACTTCCGGACACACAG
Phenotype
MIM: 300626
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
ASB11 PubMed Links

Gene Details

Gene
ASB11
Gene Name
ankyrin repeat and SOCS box containing 11
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001012428.2 870 Missense Mutation CAA,CGA Q280R NP_001012428.1
NM_001201583.1 870 Missense Mutation CAA,CGA Q284R NP_001188512.1
NM_080873.2 870 Missense Mutation CAA,CGA Q301R NP_543149.1

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