Product Details

SNP ID

rs200257621

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:66616880 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCGGGCGCGCTGCGCGCCATCGAA[G/T]CCCTGCACGGCCACGAGCTGCGGCC

Phenotype

MIM: 612409

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

RBM14 PubMed Links

Gene Details

Gene

RBM14

Gene Name

RNA binding motif protein 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198836.1	299	Missense Mutation	GCC,TCC	A54S	NP_001185765.1
NM_001198837.1	299	Missense Mutation	GCC,TCC	A54S	NP_001185766.1
NM_006328.3	299	Missense Mutation	GCC,TCC	A54S	NP_006319.1

Gene

RBM14-RBM4

Gene Name

RBM14-RBM4 readthrough

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001198845.1	299	Missense Mutation	GCC,TCC	A54S	NP_001185774.1
NM_001198846.1	299	Missense Mutation	GCC,TCC	A54S	NP_001185775.1

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