Product Details

SNP ID

rs145373644

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:800187 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGGCGTCTGCGCCCTTCCTCTGCC[A/G]GGCAGCCTCAGCCTCCTCGGGCACC

Phenotype

MIM: 605247 MIM: 180530 MIM: 609302

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PANO1 PubMed Links

Gene Details

Gene

PANO1

Gene Name

proapoptotic nucleolar protein 1

There are no transcripts associated with this gene.

Gene

PIDD1

Gene Name

p53-induced death domain protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_145886.3	3375	Missense Mutation	CGG,TGG	R740W	NP_665893.2
NM_145887.3	3375	Missense Mutation	CGG,TGG	R723W	NP_665894.2
XM_005253005.4	3375	Missense Mutation	CGG,TGG	R764W	XP_005253062.1
XM_005253006.4	3375	Missense Mutation	CGG,TGG	R764W	XP_005253063.1
XM_005253007.3	3375	Missense Mutation	CGG,TGG	R764W	XP_005253064.1
XM_005253008.4	3375	Missense Mutation	CGG,TGG	R618W	XP_005253065.1
XM_011520209.2	3375	Missense Mutation	CGG,TGG	R750W	XP_011518511.1
XM_011520210.2	3375	Missense Mutation	CGG,TGG	R740W	XP_011518512.1
XM_011520211.2	3375	Missense Mutation	CGG,TGG	R723W	XP_011518513.1
XM_011520212.1	3375	Missense Mutation	CGG,TGG	R618W	XP_011518514.1
XM_011520213.2	3375	Missense Mutation	CGG,TGG	R451W	XP_011518515.1
XM_017017993.1	3375	Missense Mutation	CGG,TGG	R427W	XP_016873482.1

Gene

RPLP2

Gene Name

ribosomal protein lateral stalk subunit P2

There are no transcripts associated with this gene.

Gene

SLC25A22

Gene Name

solute carrier family 25 member 22

There are no transcripts associated with this gene.

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