Product Details

SNP ID

rs145569223

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:83216565 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAGGATAAAGCCGACCCTCTTCC[A/C]AGTGTTTATCTGACACTTGCTGAGC

Phenotype

MIM: 154250

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ME1 PubMed Links

Gene Details

Gene

ME1

Gene Name

malic enzyme 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002395.5	1746	Missense Mutation	TGG,TTG	W494L	NP_002386.1
XM_011535836.2	1746	Missense Mutation	TGG,TTG	W419L	XP_011534138.1

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