Product Details

SNP ID

rs142608913

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:78168698 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCCTGACGCAGCCGCAGGTGGTG[G/T]CGCGCGCCGTGTGCTTGGTGAGCCC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320523.1	154	Missense Mutation	GCG,TCG	A28S	NP_001307452.1
NM_004710.4	154	Missense Mutation	GCG,TCG	A28S	NP_004701.1
XM_005257792.3	154	Intron			XP_005257849.1

Gene

TK1

Gene Name

thymidine kinase 1

There are no transcripts associated with this gene.

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