Product Details

SNP ID: rs140219639
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.14:74493739 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GCCTCCCGAGGCCCCGGGTGAGAAA[A/C]GGGGGAGACGCGAGGGGCGGAGCTT
Phenotype: MIM: 615317 MIM: 602091 MIM: 601015
Polymorphism: A/C, Transversion 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	20	UTR 5			NP_001258936.1
NM_194279.3	20	UTR 5			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006432.3	20	Intron			NP_006423.1
XM_017020930.1	20	Intron			XP_016876419.1

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