Product Details

SNP ID

rs150442718

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:96277085 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGCACCACCTCTGGCTCACCTGC[A/G]GATGCTGTCCTTATCTACCACCTCA

Phenotype

MIM: 604333 MIM: 601664

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CIAO1 PubMed Links

Gene Details

Gene

CIAO1

Gene Name

cytosolic iron-sulfur assembly component 1

There are no transcripts associated with this gene.

Gene

SNRNP200

Gene Name

small nuclear ribonucleoprotein U5 subunit 200

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014014.4	7050	Missense Mutation	CGC,TGC	R2030C	NP_054733.2
XM_017003603.1	7050	Missense Mutation	CGC,TGC	R2030C	XP_016859092.1

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