Product Details

SNP ID

rs78711689

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:23312803 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCATTCTCATCAGGTGTCTGGTCAC[A/G]AGGGACAACAACTTCTGCACTTGAC

Phenotype

MIM: 608259 MIM: 614624

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

IGF2BP3 PubMed Links

Gene Details

Gene

IGF2BP3

Gene Name

insulin like growth factor 2 mRNA binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006547.2	2152	Intron			NP_006538.2
XM_006715639.2	2152	Intron			XP_006715702.1
XM_011515089.2	2152	Missense Mutation	CGT,TGT	R530C	XP_011513391.1
XM_011515090.2	2152	Missense Mutation	CGT,TGT	R417C	XP_011513392.1
XM_011515091.2	2152	Intron			XP_011513393.1
XM_011515092.2	2152	Intron			XP_011513394.1
XM_011515093.2	2152	Missense Mutation	CGT,TGT	R432C	XP_011513395.1

Gene

MALSU1

Gene Name

mitochondrial assembly of ribosomal large subunit 1

There are no transcripts associated with this gene.

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