Product Details

SNP ID
rs145623271
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:6869275 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCAACAGCTGATTGGGCAGAAAGT[C/G]GCCCATGCTCTGGCAGAGGGACTCG
Phenotype
MIM: 611658 MIM: 190450 MIM: 601447
Polymorphism
C/G, Transversion 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
There are no transcripts associated with this gene.

Gene
TPI1
Gene Name
triosephosphate isomerase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000365.5 489 Silent Mutation GTC,GTG V114V NP_000356.1
NM_001159287.1 489 Silent Mutation GTC,GTG V151V NP_001152759.1
NM_001258026.1 489 Silent Mutation GTC,GTG V32V NP_001244955.1
Gene
USP5
Gene Name
ubiquitin specific peptidase 5
There are no transcripts associated with this gene.

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