Product Details

SNP ID

rs144519222

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:74885602 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTTGCAGGGGTCTCCTTATGCCA[A/G]GGACCAGGTTACCCTAACAGCAGGA

Phenotype

MIM: 126063 MIM: 615094

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

DLST PubMed Links

Gene Details

Gene

DLST

Gene Name

dihydrolipoamide S-succinyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001244883.1	177	Silent Mutation	CAA,CAG	Q38Q	NP_001231812.1
NM_001933.4	177	Intron			NP_001924.2

Gene

PROX2

Gene Name

prospero homeobox 2

There are no transcripts associated with this gene.

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