Product Details

SNP ID

rs140018251

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:246727002 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACAGTTGTCCTCAATTGCGTAGGA[C/T]CAGTAAGTAATCAACCCTTCTTTGT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SCCPDH PubMed Links

Gene Details

Gene

SCCPDH

Gene Name

saccharopine dehydrogenase (putative)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016002.2	648	Missense Mutation	CCA,TCA	P101S	NP_057086.2

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