Product Details

SNP ID

rs144813013

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2757776 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTGTTGCCACCCGAAATCATGCC[A/G]GACATGCTGCAGGAGAGAGCGCGTG

Phenotype

MIM: 603419

Polymorphism

A/G, Transition 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	945	Silent Mutation	TCC,TCT	S248S	NP_003012.1
XM_011528178.2	945	Silent Mutation	TCC,TCT	S248S	XP_011526480.1

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