Product Details

SNP ID

rs11547001

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:34435239 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAAAGTAGTGCAATATCGCCATGA[A/T]GTGCTGGGGCATGAAGACGTATCCT

Phenotype

MIM: 613540

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

SPTSSA PubMed Links

Gene Details

Gene

SPTSSA

Gene Name

serine palmitoyltransferase small subunit A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138288.3	233	Missense Mutation	ATC,TTC	I60F	NP_612145.2

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