Product Details

SNP ID

rs191915715

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74494848 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGTATTTGAACAGGGTGGGGCA[A/G]GAGTGGTGGTTGACTCTGATAGCTT

Phenotype

MIM: 615317 MIM: 602091 MIM: 601015

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ISCA2 PubMed Links

Gene Details

Gene

ISCA2

Gene Name

iron-sulfur cluster assembly 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272007.1	368	UTR 3			NP_001258936.1
NM_194279.3	368	Missense Mutation	AGA,GGA	R105G	NP_919255.2

Gene

LTBP2

Gene Name

latent transforming growth factor beta binding protein 2

There are no transcripts associated with this gene.

Gene

NPC2

Gene Name

NPC intracellular cholesterol transporter 2

There are no transcripts associated with this gene.

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