Product Details

SNP ID

rs201390377

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17305917 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATGGCTGTCTTGGCTGGATCCCTG[C/T]TGGGCCCCACGAGTAGGTCGGCAGC

Phenotype

MIM: 611840

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ABHD8 PubMed Links

Gene Details

Gene

ABHD8

Gene Name

abhydrolase domain containing 8

There are no transcripts associated with this gene.

Gene

DDA1

Gene Name

DET1 and DDB1 associated 1

There are no transcripts associated with this gene.

Gene

MRPL34

Gene Name

mitochondrial ribosomal protein L34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023937.3	250	Silent Mutation	CTG,TTG	L9L	NP_076426.1
XM_011528189.2	250	Silent Mutation	CTG,TTG	L9L	XP_011526491.1

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