Product Details

SNP ID
rs143960270
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:74484500 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GATAGGGCAGTTAATTCCACTCTTA[A/C]AACCATCAGGCTCAGGAATGGGAAA
Phenotype
MIM: 615317 MIM: 601015 MIM: 609999
Polymorphism
A/C, Transversion 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
MIR4709
Gene Name
microRNA 4709
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_006432.3 385 Missense Mutation TGT,TTT C93F NP_006423.1
XM_017020930.1 385 Missense Mutation TGT,TTT C93F XP_016876419.1
Gene
SYNDIG1L
Gene Name
synapse differentiation inducing 1 like
There are no transcripts associated with this gene.

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