Product Details

SNP ID

rs200445800

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:73984865 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCAACTTCACTCACCATCTCCACG[A/G]TGTCTGCTGGGGGTGGCCAACAGGG

Phenotype

MIM: 102578 MIM: 608326

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PML PubMed Links

Gene Details

Gene

PML

Gene Name

promyelocytic leukemia

There are no transcripts associated with this gene.

Gene

STOML1

Gene Name

stomatin like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256672.1	1824	Missense Mutation	ACC,ATC	T265I	NP_001243601.1
NM_001256673.1	1824	Missense Mutation	ACC,ATC	T216I	NP_001243602.1
NM_001256674.1	1824	Missense Mutation	ACC,ATC	T215I	NP_001243603.1
NM_001256675.1	1824	Intron			NP_001243604.1
NM_001256676.1	1824	Missense Mutation	ACC,ATC	T178I	NP_001243605.1
NM_001256677.1	1824	Missense Mutation	ACC,ATC	T223I	NP_001243606.1
NM_001324226.1	1824	Missense Mutation	ACC,ATC	T109I	NP_001311155.1
NM_001324227.1	1824	Missense Mutation	ACC,ATC	T179I	NP_001311156.1
NM_001324228.1	1824	Missense Mutation	ACC,ATC	T179I	NP_001311157.1
NM_001324229.1	1824	Missense Mutation	ACC,ATC	T110I	NP_001311158.1
NM_001324230.1	1824	Missense Mutation	ACC,ATC	T224I	NP_001311159.1
NM_004809.4	1824	Missense Mutation	ACC,ATC	T266I	NP_004800.2
XM_005254792.4	1824	Missense Mutation	ACC,ATC	T224I	XP_005254849.1
XM_006720773.3	1824	Missense Mutation	ACC,ATC	T223I	XP_006720836.1

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