Product Details

SNP ID
rs149713334
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78161027 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCAAAGGCCGCTGGGTGCTCATAA[A/C]CTGCTGTGCACCCCAGCCACCACCG
Phenotype
MIM: 603926
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
C17orf99 PubMed Links

Gene Details

Gene
C17orf99
Gene Name
chromosome 17 open reading frame 99
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001163075.1 209 Missense Mutation AAC,ACC N48T NP_001156547.1
XM_011524152.2 209 Missense Mutation AAC,ACC N52T XP_011522454.1
XM_017023997.1 209 Missense Mutation AAC,ACC N52T XP_016879486.1
XM_017023998.1 209 Missense Mutation AAC,ACC N48T XP_016879487.1
XM_017023999.1 209 Intron XP_016879488.1
XM_017024000.1 209 UTR 5 XP_016879489.1
XM_017024001.1 209 UTR 5 XP_016879490.1
Gene
SYNGR2
Gene Name
synaptogyrin 2
There are no transcripts associated with this gene.

View Full Product Details