Product Details

SNP ID

rs61753580

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:96275054 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTCTCAGCTTCTTTCACATCCAC[A/G]CTGAATTTGTACTCCTGGTCACATC

Phenotype

MIM: 604333 MIM: 601664 MIM: 613403

Polymorphism

A/G, 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	7331	Intron			NP_004795.1

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	7331	Silent Mutation	AGC,AGT	S2123S	NP_054733.2
XM_017003603.1	7331	Silent Mutation	AGC,AGT	S2123S	XP_016859092.1

Gene

TMEM127

Gene Name

transmembrane protein 127

There are no transcripts associated with this gene.

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