Product Details

SNP ID
rs78947498
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.17:78170895 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCACGAGTCTAAGCAGATGTACTGC[A/G]TGTTCAACCGCAACGAGGATGCCTG
Phenotype
MIM: 603926 MIM: 188300
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
C17orf99 PubMed Links

Gene Details

Gene
C17orf99
Gene Name
chromosome 17 open reading frame 99
There are no transcripts associated with this gene.

Gene
SYNGR2
Gene Name
synaptogyrin 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320523.1 250 Missense Mutation ATG,GTG M60V NP_001307452.1
NM_004710.4 250 Missense Mutation ATG,GTG M60V NP_004701.1
XM_005257792.3 250 Intron XP_005257849.1
Gene
TK1
Gene Name
thymidine kinase 1
There are no transcripts associated with this gene.

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