Product Details

SNP ID

rs145181246

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:51995072 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGAGATTCGTATCTTTGTGATCG[C/G]GGTTTCTTGATACCATTTCTGTGCC

Phenotype

MIM: 104620 MIM: 601832

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ABHD14A-ACY1 PubMed Links

Gene Details

Gene

ABHD14A-ACY1

Gene Name

ABHD14A-ACY1 readthrough

There are no transcripts associated with this gene.

Gene

ACY1

Gene Name

aminoacylase 1

There are no transcripts associated with this gene.

Gene

RPL29

Gene Name

ribosomal protein L29

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000992.2		Intron			NP_000983.1

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