Product Details

SNP ID

rs182538760

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55819156 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATTCCTGTTGTCTGGACCCTGACC[A/C]ACGTCATCCATAACCTGGTGAGCAC

Phenotype

MIM: 606092 MIM: 610074 MIM: 610049

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DNAJC14 PubMed Links

Gene Details

Gene

DNAJC14

Gene Name

DnaJ heat shock protein family (Hsp40) member C14

There are no transcripts associated with this gene.

Gene

ORMDL2

Gene Name

ORMDL sphingolipid biosynthesis regulator 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014182.4	249	Missense Mutation	AAC,CAC	N53H	NP_054901.1

Gene

SARNP

Gene Name

SAP domain containing ribonucleoprotein

There are no transcripts associated with this gene.

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