Product Details

SNP ID

rs142136595

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:151270854 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCATTCCTGTCAGAAGCACTGTCC[A/T]CTTAGATGTTCCTGAAAATATCTAA

Phenotype

MIM: 603525

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

NMI PubMed Links

Gene Details

Gene

NMI

Gene Name

N-myc and STAT interactor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004688.2	1166	Missense Mutation	AGG,TGG	R255W	NP_004679.2
XM_005246941.2	1166	Missense Mutation	AGG,TGG	R255W	XP_005246998.1
XM_017005247.1	1166	Missense Mutation	AGG,TGG	R255W	XP_016860736.1

Gene

RBM43

Gene Name

RNA binding motif protein 43

There are no transcripts associated with this gene.

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