Product Details

SNP ID

rs189405285

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74500912 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCCTTGGCAGTGCAGTGGGGGGGC[C/T]CTGCCTCAGCCACATATCCCGGGGA

Phenotype

MIM: 615317 MIM: 602091 MIM: 601015

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ISCA2 PubMed Links

Gene Details

Gene

ISCA2

Gene Name

iron-sulfur cluster assembly 2

There are no transcripts associated with this gene.

Gene

LTBP2

Gene Name

latent transforming growth factor beta binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000428.2	5825	Missense Mutation	GAG,GGG	E1813G	NP_000419.1
XM_011536765.1	5825	Missense Mutation	GAG,GGG	E1686G	XP_011535067.1

Gene

NPC2

Gene Name

NPC intracellular cholesterol transporter 2

There are no transcripts associated with this gene.

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