Product Details

SNP ID
rs199775938
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6871289 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCAGGTTGTGGCGCACACACAGG[C/T]GGCTCAGGTGCAGAAGGGAGTGTGG
Phenotype
MIM: 611658 MIM: 190450 MIM: 601447
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
LOC105369632 PubMed Links

Gene Details

Gene
LOC105369632
Gene Name
uncharacterized LOC105369632
There are no transcripts associated with this gene.

Gene
SPSB2
Gene Name
splA/ryanodine receptor domain and SOCS box containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001146316.1 1151 Missense Mutation CAC,CGC H232R NP_001139788.1
NM_001319670.1 1151 Missense Mutation CAC,CGC H232R NP_001306599.1
NM_032641.3 1151 Missense Mutation CAC,CGC H232R NP_116030.1
Gene
TPI1
Gene Name
triosephosphate isomerase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000365.5 1151 Intron NP_000356.1
NM_001159287.1 1151 Intron NP_001152759.1
NM_001258026.1 1151 Intron NP_001244955.1
Gene
USP5
Gene Name
ubiquitin specific peptidase 5
There are no transcripts associated with this gene.

View Full Product Details