Product Details

SNP ID
rs201938976
Assay Type
Functionally Tested
NCBI dbSNP Submissions
5
Location
Chr.1:32684261 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGTATAGCAGCAGAAACTGACTTA[C/T]AAGTAGAGAGCTCTTCAGCAAGACT
Phenotype
MIM: 602923 MIM: 611750
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
RBBP4 PubMed Links

Gene Details

Gene
RBBP4
Gene Name
RB binding protein 4, chromatin remodeling factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001135255.1 5893 UTR 3 NP_001128727.1
NM_001135256.1 5893 UTR 3 NP_001128728.1
NM_005610.2 5893 UTR 3 NP_005601.1
Gene
SYNC
Gene Name
syncoilin, intermediate filament protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001161708.1 5893 Missense Mutation TAT,TGT Y452C NP_001155180.1
NM_030786.2 5893 Missense Mutation TAT,TGT Y452C NP_110413.2

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