Product Details

SNP ID
rs202020451
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:60425819 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCATGCCTGGAGACAAGCTCCAGC[A/G]CCAGCCCTGCTAGAGACTCGCTCAT
Phenotype
MIM: 607740
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
C17orf64 PubMed Links

Gene Details

Gene
C17orf64
Gene Name
chromosome 17 open reading frame 64
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_181707.2 473 Missense Mutation ACC,GCC T30A NP_859058.2
XM_005257033.4 473 Missense Mutation ACC,GCC T63A XP_005257090.1
XM_005257034.4 473 Missense Mutation ACC,GCC T63A XP_005257091.1
XM_005257035.4 473 UTR 5 XP_005257092.1
XM_005257036.2 473 Missense Mutation ACC,GCC T30A XP_005257093.1
XM_017024166.1 473 UTR 5 XP_016879655.1
Gene
RPL12P38
Gene Name
ribosomal protein L12 pseudogene 38
There are no transcripts associated with this gene.

Gene
USP32
Gene Name
ubiquitin specific peptidase 32
There are no transcripts associated with this gene.

View Full Product Details