Product Details

SNP ID

rs200270910

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2757762 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGAGTTCCCAAGGGGTTGTTGCCA[A/C]CCGAAATCATGCCGGACATGCTGCA

Phenotype

MIM: 603419

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

SGTA PubMed Links

Gene Details

Gene

SGTA

Gene Name

small glutamine rich tetratricopeptide repeat containing alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003021.3	959	Missense Mutation			NP_003012.1
XM_011528178.2	959	Missense Mutation			XP_011526480.1

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