Product Details

SNP ID

rs147240748

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:118660623 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAACAGGCACCAGTTTGCTTGTTC[A/G]GATGCCGCTAAGCGAGTTGGGGTTT

Phenotype

MIM: 612834 MIM: 275360

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PHLDB1 PubMed Links

Gene Details

Gene

PHLDB1

Gene Name

pleckstrin homology like domain family B member 1

There are no transcripts associated with this gene.

Gene

TREH

Gene Name

trehalase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301065.1	1063	Nonsense Mutation	CGA,TGA	R309*	NP_001287994.1
NM_007180.2	1063	Nonsense Mutation	CGA,TGA	R340*	NP_009111.2

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