Product Details

SNP ID

rs149136930

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:228174949 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACGCATGGGGTGGCGGCTCCTCA[C/T]CCAGGATGAAGGCCCAGCCCTGGTG

Phenotype

MIM: 615316

Polymorphism

C/T, Transition 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	608	Missense Mutation	ACC,ATC	T200I	NP_001010867.1
NM_001310327.1	608	Missense Mutation	ACC,ATC	T7I	NP_001297256.1

Gene

IBA57-AS1

Gene Name

IBA57 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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