Product Details

SNP ID

rs200001487

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:109340533 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTAGAACACGTTACTGTTGATGAC[C/T]TGGTGGCTGAAATCACTCCAAAAGG

Phenotype

MIM: 606109

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ENY2 PubMed Links

Gene Details

Gene

ENY2

Gene Name

ENY2, transcription and export complex 2 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193557.1	273	Silent Mutation	CTG,TTG	L62L	NP_001180486.1
NM_020189.5	273	Silent Mutation	CTG,TTG	L67L	NP_064574.1

Gene

NUDCD1

Gene Name

NudC domain containing 1

There are no transcripts associated with this gene.

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