Product Details

SNP ID

rs140067992

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:131930039 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGAGAACATCCGGCGAAGAAGCT[C/G]AAGAGCGGTGGCGACGAGGAGCGGC

Phenotype

MIM: 608109 MIM: 603168

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

PUS1 PubMed Links

Gene Details

Gene

PUS1

Gene Name

pseudouridylate synthase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002019.2	662	Silent Mutation	CTC,CTG	L41L	NP_001002019.1
NM_001002020.2	662	Silent Mutation	CTC,CTG	L41L	NP_001002020.1
NM_025215.5	662	Silent Mutation	CTC,CTG	L69L	NP_079491.2
XM_011538768.2	662	Intron			XP_011537070.1
XM_011538769.2	662	Silent Mutation	CTC,CTG	L69L	XP_011537071.1

Gene

ULK1

Gene Name

unc-51 like autophagy activating kinase 1

There are no transcripts associated with this gene.

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