Product Details

SNP ID

rs143540503

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:32684348 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGAGTTGCACCCCATTTCTTAAC[C/T]GCCTCTGGCGTTCTTCCATTTCCTC

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	5980	UTR 3			NP_001128727.1
NM_001135256.1	5980	UTR 3			NP_001128728.1
NM_005610.2	5980	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	5980	Missense Mutation	CAG,CGG	Q423R	NP_001155180.1
NM_030786.2	5980	Missense Mutation	CAG,CGG	Q423R	NP_110413.2

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