Product Details

SNP ID
rs144386956
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:32684071 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGGGAGCATCAGCCTGTTCCAGGCT[C/T]TTGGGTAGTAGCATAGCCCTTTAAA
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 5703 UTR 3 NP_001128727.1
NM_001135256.1 5703 UTR 3 NP_001128728.1
NM_005610.2 5703 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 5703 Intron NP_001155180.1
NM_030786.2 5703 Silent Mutation AAA,AAG K459K NP_110413.2

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