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SNP ID

rs141544943

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:73998232 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGCAGCGGCGCCTGTCGGTGTAC[C/T]GGCAGATTGTGGATGCGCAGGCTGT

Phenotype

MIM: 102578 MIM: 608326

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PML PubMed Links

Gene Details

Gene

PML

Gene Name

promyelocytic leukemia

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002675.3	498	Missense Mutation	CGG,TGG	R120W	NP_002666.1
NM_033238.2	498	Missense Mutation	CGG,TGG	R120W	NP_150241.2
NM_033239.2	498	Missense Mutation	CGG,TGG	R120W	NP_150242.1
NM_033240.2	498	Missense Mutation	CGG,TGG	R120W	NP_150243.2
NM_033244.3	498	Missense Mutation	CGG,TGG	R120W	NP_150247.2
NM_033246.2	498	Missense Mutation	CGG,TGG	R120W	NP_150249.1
NM_033247.2	498	Missense Mutation	CGG,TGG	R120W	NP_150250.2
NM_033249.2	498	Missense Mutation	CGG,TGG	R120W	NP_150252.1
NM_033250.2	498	Missense Mutation	CGG,TGG	R120W	NP_150253.2

Gene

STOML1

Gene Name

stomatin like 1

There are no transcripts associated with this gene.

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