Product Details

SNP ID

rs75252551

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55827363 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCCTCAGGAACCCCAGCCATGGT[A/C]AAGAGTCGAGCCACTTCCTCTTCAG

Phenotype

MIM: 606092 MIM: 601807 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032364.5	1500	Missense Mutation	TTG,TTT	L432F	NP_115740.5

Gene

MMP19

Gene Name

matrix metallopeptidase 19

There are no transcripts associated with this gene.

Gene

ORMDL2

Gene Name

ORMDL sphingolipid biosynthesis regulator 2

There are no transcripts associated with this gene.

Gene

SARNP

Gene Name

SAP domain containing ribonucleoprotein

There are no transcripts associated with this gene.

Gene

TMEM198B

Gene Name

transmembrane protein 198B (pseudogene)

There are no transcripts associated with this gene.

View Full Product Details