Product Details

SNP ID

rs147416393

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:77509909 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGATATAGATATATTTTAAATGCCG[A/G]TACTGACATTTGAATTTGCAGTGAC

Phenotype

MIM: 605713

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SPTLC2 PubMed Links

Gene Details

Gene

SPTLC2

Gene Name

serine palmitoyltransferase long chain base subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004863.3	4252	UTR 3			NP_004854.1
XM_011537384.2	4252	Intron			XP_011535686.1

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