Product Details

SNP ID

rs138807398

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:50908830 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTATGGGAACTCACCTGTCATGA[A/T]AAAATAGCATGTTGATGATATCTTT

Phenotype

MIM: 613741

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

ABHD12B PubMed Links

Gene Details

Gene

ABHD12B

Gene Name

abhydrolase domain containing 12B

There are no transcripts associated with this gene.

Gene

PYGL

Gene Name

phosphorylase, glycogen, liver

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001163940.1	2328	Missense Mutation	TAT,TTT	Y734F	NP_001157412.1
NM_002863.4	2328	Missense Mutation	TAT,TTT	Y768F	NP_002854.3

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