Product Details

SNP ID
rs186351373
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5687911 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCGCGCCCGCGGGCCTGGTTTATCC[A/G]CCAGGAGCTCAACGTCACGGCCGCG
Phenotype
MIM: 616658 MIM: 605490
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C19orf70 PubMed Links

Gene Details

Gene
C19orf70
Gene Name
chromosome 19 open reading frame 70
There are no transcripts associated with this gene.

Gene
HSD11B1L
Gene Name
hydroxysteroid 11-beta dehydrogenase 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001267868.1 1486 Missense Mutation CAC,CGC H323R NP_001254797.1
NM_001267869.1 1486 Missense Mutation CAC,CGC H142R NP_001254798.1
NM_001267870.1 1486 Silent Mutation CCA,CCG P164P NP_001254799.1
NM_001267871.1 1486 Intron NP_001254800.1
NM_198533.2 1486 Intron NP_940935.1
NM_198704.2 1486 Intron NP_941993.1
NM_198705.2 1486 Missense Mutation CAC,CGC H195R NP_941994.1
NM_198706.2 1486 Missense Mutation CAC,CGC H276R NP_941995.1
NM_198707.2 1486 Missense Mutation CAC,CGC H189R NP_941996.1
NM_198708.2 1486 Missense Mutation CAC,CGC H142R NP_941997.1
Gene
LOC107985320
Gene Name
uncharacterized LOC107985320
There are no transcripts associated with this gene.

Gene
LONP1
Gene Name
lon peptidase 1, mitochondrial
There are no transcripts associated with this gene.

Gene
RPL36
Gene Name
ribosomal protein L36
There are no transcripts associated with this gene.

View Full Product Details