Product Details

SNP ID

rs148483557

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:23785420 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTGAGGACTTCTTCGTGATGAGT[C/G]ATTATAGAGGTACGATTGAGTTCGG

Phenotype

MIM: 313020

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SAT1 PubMed Links

Gene Details

Gene

SAT1

Gene Name

spermidine/spermine N1-acetyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002970.3	489	Missense Mutation	CAT,GAT	H99D	NP_002961.1
XM_017029720.1	489	Missense Mutation	CAT,GAT	H134D	XP_016885209.1

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