Product Details

SNP ID

rs112272101

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:110644593 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGAGGGATGCAGCAGCCGCCGCCG[C/T]CGCCCCAGCCACCGCCCCCGCCCCA

Phenotype

MIM: 613171

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

RBM20 PubMed Links

Gene Details

Gene

RBM20

Gene Name

RNA binding motif protein 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134363.2	197	Missense Mutation	CCG,TCG	P47S	NP_001127835.2
XM_011539697.2	197	Intron			XP_011537999.1
XM_017016103.1	197	Intron			XP_016871592.1
XM_017016104.1	197	Intron			XP_016871593.1

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