Product Details

SNP ID
rs202082756
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:581994 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CAGCGTGGGCAGCAGTGGGGACTCT[A/G]GGGACGACAGTGACAGCGAGCATGG
Phenotype
MIM: 611780
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
LOC143666 PubMed Links

Gene Details

Gene
LOC143666
Gene Name
uncharacterized LOC143666
There are no transcripts associated with this gene.

Gene
PHRF1
Gene Name
PHD and ring finger domains 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001286581.1 295 Missense Mutation AGG,GGG R43G NP_001273510.1
NM_001286582.1 295 Missense Mutation AGG,GGG R42G NP_001273511.1
NM_001286583.1 295 Missense Mutation AGG,GGG R39G NP_001273512.1
NM_020901.3 295 Missense Mutation AGG,GGG R43G NP_065952.2
XM_005253025.4 295 Missense Mutation AGG,GGG R42G XP_005253082.1
XM_005253027.3 295 Missense Mutation AGG,GGG R40G XP_005253084.1
XM_011520236.2 295 Missense Mutation AGG,GGG R43G XP_011518538.1
XM_011520237.2 295 Intron XP_011518539.1

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