Product Details

SNP ID

rs200891604

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17306302 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGCAAGAACAAGCACGGCTGGGTC[C/G]GGCGCCTGAGCACGCCGGCCGGCGT

Phenotype

MIM: 611840

Polymorphism

C/G, Transversion 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	427	Missense Mutation	CGG,GGG	R68G	NP_076426.1
XM_011528189.2	427	Missense Mutation	CGG,GGG	R68G	XP_011526491.1

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