Product Details

SNP ID

rs104894457

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74480707 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCACCCCCAGATAGACTTACGATCT[G/A]TACTGGGATTTCCCAGCAGAAGAGA

Phenotype

MIM: 601015 MIM: 609999

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

MIR4709 PubMed Links

Gene Details

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	543	Nonsense Mutation	CAG,TAG	Q146*	NP_006423.1
XM_017020930.1	543	Nonsense Mutation	CAG,TAG	Q146*	XP_016876419.1

Gene

SYNDIG1L

Gene Name

synapse differentiation inducing 1 like

There are no transcripts associated with this gene.

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