Product Details

SNP ID

hCV25938517

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:71454974 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGGAAGCCTGACTGCATCCCGT[C/T]TGGGAAGGCACAGAGCATTTTTGTT

Phenotype

MIM: 602858 MIM: 608285

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DHCR7 PubMed Links

Gene Details

Gene

DHCR7

Gene Name

7-dehydrocholesterol reductase

There are no transcripts associated with this gene.

Gene

NADSYN1

Gene Name

NAD synthetase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018161.4		Intron			NP_060631.2

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