Product Details

SNP ID

rs185889672

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:151270826 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACAATTTCTTCATCCATTTGAATG[C/T]CTTCCATTCCTGTCAGAAGCACTGT

Phenotype

MIM: 603525

Polymorphism

C/T, Transition 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	1194	Missense Mutation	GAC,GGC	D264G	NP_004679.2
XM_005246941.2	1194	Missense Mutation	GAC,GGC	D264G	XP_005246998.1
XM_017005247.1	1194	Missense Mutation	GAC,GGC	D264G	XP_016860736.1

Gene

RBM43

Gene Name

RNA binding motif protein 43

There are no transcripts associated with this gene.

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