Product Details

SNP ID
rs144373478
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:55837139 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ACCTGATGGGGTAGTGTCTATAGTC[C/G]GGGGACGACAGTGCATCCAGTTGTG
Phenotype
MIM: 606092 MIM: 601807
Polymorphism
C/G, 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
MMP19
Gene Name
matrix metallopeptidase 19
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001272101.1 1317 UTR 3 NP_001259030.1
NM_002429.5 1317 Missense Mutation CCG,CGG P475R NP_002420.1
XM_006719401.3 1317 Missense Mutation CCG,CGG P246R XP_006719464.1
XM_011538359.1 1317 Missense Mutation CCG,CGG P393R XP_011536661.1
XM_017019308.1 1317 Intron XP_016874797.1
XM_017019309.1 1317 Intron XP_016874798.1
Gene
TMEM198B
Gene Name
transmembrane protein 198B (pseudogene)
There are no transcripts associated with this gene.

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