Product Details

SNP ID

rs148682902

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:96267639 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCTTTCACAGTGTGTAACCACTCT[C/T]GAGGGCCATGAAAATGAGGTCAAGT

Phenotype

MIM: 604333 MIM: 601664 MIM: 613403

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CIAO1 PubMed Links

Gene Details

Gene

CIAO1

Gene Name

cytosolic iron-sulfur assembly component 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004804.2	508	Silent Mutation	CTC,CTT	L101L	NP_004795.1

Gene

SNRNP200

Gene Name

small nuclear ribonucleoprotein U5 subunit 200

There are no transcripts associated with this gene.

Gene

TMEM127

Gene Name

transmembrane protein 127

There are no transcripts associated with this gene.

View Full Product Details