Product Details

SNP ID: rs144543979
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:96266481 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCGACCGGAGAATCCGCATCTGGG[C/G]CACGGAGGGTAAGGCCCAGCCTGGT
Phenotype: MIM: 604333 MIM: 601664 MIM: 613403
Polymorphism: C/G, Transversion 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	336	Missense Mutation	GCC,GGC	A44G	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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193304.2	336	Intron			NP_001180233.1
NM_017849.3	336	Intron			NP_060319.1
XM_017004450.1	336	Intron			XP_016859939.1
XM_017004451.1	336	Intron			XP_016859940.1
XM_017004452.1	336	Intron			XP_016859941.1

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