Product Details

SNP ID

rs146897652

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:113392958 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCGTCCTCACTTGGGCAACCTAT[C/T]TGTCATGCCCAGCTGTTCCTTGAGC

Phenotype

MIM: 182128

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PLBD2 PubMed Links

Gene Details

Gene

PLBD2

Gene Name

phospholipase B domain containing 2

There are no transcripts associated with this gene.

Gene

SDS

Gene Name

serine dehydratase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006843.2	1092	Missense Mutation	AAT,GAT	N324D	NP_006834.2

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