Product Details

SNP ID

rs28504405

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:73994894 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAGCCCACCATGCCTCCCCCCGAG[A/C]CCCCCTCTGAAGGCCGCCAGCCCAG

Phenotype

MIM: 102578 MIM: 608326

Polymorphism

A/C, Transversion 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	222	Missense Mutation	ACC,CCC	T28P	NP_002666.1
NM_033238.2	222	Missense Mutation	ACC,CCC	T28P	NP_150241.2
NM_033239.2	222	Missense Mutation	ACC,CCC	T28P	NP_150242.1
NM_033240.2	222	Missense Mutation	ACC,CCC	T28P	NP_150243.2
NM_033244.3	222	Missense Mutation	ACC,CCC	T28P	NP_150247.2
NM_033246.2	222	Missense Mutation	ACC,CCC	T28P	NP_150249.1
NM_033247.2	222	Missense Mutation	ACC,CCC	T28P	NP_150250.2
NM_033249.2	222	Missense Mutation	ACC,CCC	T28P	NP_150252.1
NM_033250.2	222	Missense Mutation	ACC,CCC	T28P	NP_150253.2

Gene

STOML1

Gene Name

stomatin like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256672.1	222	Intron			NP_001243601.1
NM_001256673.1	222	Intron			NP_001243602.1
NM_001256674.1	222	Intron			NP_001243603.1
NM_001256675.1	222	Intron			NP_001243604.1
NM_001256676.1	222	Intron			NP_001243605.1
NM_001256677.1	222	Intron			NP_001243606.1
NM_001324226.1	222	Intron			NP_001311155.1
NM_001324227.1	222	Intron			NP_001311156.1
NM_001324228.1	222	Intron			NP_001311157.1
NM_001324229.1	222	Intron			NP_001311158.1
NM_001324230.1	222	Intron			NP_001311159.1
NM_004809.4	222	Intron			NP_004800.2
XM_005254792.4	222	Intron			XP_005254849.1
XM_006720773.3	222	Intron			XP_006720836.1

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