Product Details

SNP ID

rs138969474

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:17294383 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGTGAGCTCGGCGTGGTAGACCT[C/T]GTCGCCCTCGGGCCAGTACTGGCCG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024527.4	1294	Missense Mutation	AAG,GAG	K352E	NP_078803.4

Gene

ANKLE1

Gene Name

ankyrin repeat and LEM domain containing 1

There are no transcripts associated with this gene.

Gene

MRPL34

Gene Name

mitochondrial ribosomal protein L34

There are no transcripts associated with this gene.

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