Product Details

SNP ID
rs185252514
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78160967 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTTCATCTCCCAGAAATTACCCCTG[C/T]GGTCTCCATTGCCTACAAAGTCCTG
Phenotype
MIM: 603926
Polymorphism
C/T, Transition 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_001163075.1 149 Missense Mutation GCG,GTG A28V NP_001156547.1
XM_011524152.2 149 Missense Mutation GCG,GTG A32V XP_011522454.1
XM_017023997.1 149 Missense Mutation GCG,GTG A32V XP_016879486.1
XM_017023998.1 149 Missense Mutation GCG,GTG A28V XP_016879487.1
XM_017023999.1 149 Intron XP_016879488.1
XM_017024000.1 149 UTR 5 XP_016879489.1
XM_017024001.1 149 UTR 5 XP_016879490.1
Gene
SYNGR2
Gene Name
synaptogyrin 2
There are no transcripts associated with this gene.

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