Product Details

SNP ID

rs147488502

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:151251240 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCACCATCCACTTTCTCCTGACTC[A/G]GAATGTGGAATTTTTTCAGTGTGCT

Phenotype

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

RBM43 PubMed Links

Gene Details

Gene

RBM43

Gene Name

RNA binding motif protein 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198557.2	1345	Missense Mutation	CCG,CTG	P247L	NP_940959.1
XM_017004052.1	1345	Missense Mutation	CCG,CTG	P250L	XP_016859541.1

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