Product Details

SNP ID

rs147289705

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:78175083 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGCCGAGCCTCTTGGTATAGGC[G/T]GCTTCCCGGAAGCACTCCATGCACA

Phenotype

MIM: 603926 MIM: 188300

Polymorphism

G/T, Transversion 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

There are no transcripts associated with this gene.

Gene

TK1

Gene Name

thymidine kinase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003258.4	694	Silent Mutation			NP_003249.3
XM_017024992.1	694	Silent Mutation			XP_016880481.1

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