Product Details

SNP ID
rs200586681
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:5687890 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGCTTGCTCCGGCGCTGGCTACCGC[C/G]CCCGCGGGCCTGGTTTATCCGCCAG
Phenotype
MIM: 616658 MIM: 605490
Polymorphism
C/G, Transversion 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 1465 Missense Mutation CCC,CGC P316R NP_001254797.1
NM_001267869.1 1465 Missense Mutation CCC,CGC P135R NP_001254798.1
NM_001267870.1 1465 Silent Mutation GCC,GCG A157A NP_001254799.1
NM_001267871.1 1465 Intron NP_001254800.1
NM_198533.2 1465 Intron NP_940935.1
NM_198704.2 1465 Intron NP_941993.1
NM_198705.2 1465 Missense Mutation CCC,CGC P188R NP_941994.1
NM_198706.2 1465 Missense Mutation CCC,CGC P269R NP_941995.1
NM_198707.2 1465 Missense Mutation CCC,CGC P182R NP_941996.1
NM_198708.2 1465 Missense Mutation CCC,CGC P135R 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.

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