Product Details

SNP ID

rs200100559

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2790454 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGACATGGCGGACGCAGCATCTC[C/T]GTGCTCTGTGGTAAACGACCTGCGG

Phenotype

MIM: 603419 MIM: 601117

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SGTA PubMed Links

Gene Details

Gene

SGTA

Gene Name

small glutamine rich tetratricopeptide repeat containing alpha

There are no transcripts associated with this gene.

Gene

THOP1

Gene Name

thimet oligopeptidase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003249.4	253	Missense Mutation	CCG,CTG	P17L	NP_003240.1
XM_011528228.2	253	Intron			XP_011526530.1

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