Product Details

SNP ID

rs28412621

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:73998109 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCTTGTCTGCACACGCTGTGCTCA[C/G]GATGCCTGGAGGCGTCGGGCATGCA

Phenotype

MIM: 102578 MIM: 608326

Polymorphism

C/G, 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	375	Missense Mutation	CGA,GGA	R79G	NP_002666.1
NM_033238.2	375	Missense Mutation	CGA,GGA	R79G	NP_150241.2
NM_033239.2	375	Missense Mutation	CGA,GGA	R79G	NP_150242.1
NM_033240.2	375	Missense Mutation	CGA,GGA	R79G	NP_150243.2
NM_033244.3	375	Missense Mutation	CGA,GGA	R79G	NP_150247.2
NM_033246.2	375	Missense Mutation	CGA,GGA	R79G	NP_150249.1
NM_033247.2	375	Missense Mutation	CGA,GGA	R79G	NP_150250.2
NM_033249.2	375	Missense Mutation	CGA,GGA	R79G	NP_150252.1
NM_033250.2	375	Missense Mutation	CGA,GGA	R79G	NP_150253.2

Gene

STOML1

Gene Name

stomatin like 1

There are no transcripts associated with this gene.

View Full Product Details