Product Details

SNP ID

rs142293421

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:228174954 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGGGGTGGCGGCTCCTCACCCAG[C/G]ATGAAGGCCCAGCCCTGGTGCCCGG

Phenotype

MIM: 615316

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

IBA57 PubMed Links

Gene Details

Gene

IBA57

Gene Name

IBA57 homolog, iron-sulfur cluster assembly

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010867.3	613	Missense Mutation	CAT,GAT	H202D	NP_001010867.1
NM_001310327.1	613	Missense Mutation	CAT,GAT	H9D	NP_001297256.1

Gene

IBA57-AS1

Gene Name

IBA57 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

View Full Product Details