Product Details

SNP ID
rs200091823
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.11:581964 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGTGTCTCACCCTGGTGTCTAGAA[G/T]AAAGCAGCGTGGGCAGCAGTGGGGA
Phenotype
MIM: 611780
Polymorphism
G/T, Transversion 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_001286581.1 265 Nonsense Mutation GAA,TAA E33* NP_001273510.1
NM_001286582.1 265 Intron NP_001273511.1
NM_001286583.1 265 Intron NP_001273512.1
NM_020901.3 265 Nonsense Mutation GAA,TAA E33* NP_065952.2
XM_005253025.4 265 Intron XP_005253082.1
XM_005253027.3 265 Nonsense Mutation GAA,TAA E30* XP_005253084.1
XM_011520236.2 265 Nonsense Mutation GAA,TAA E33* XP_011518538.1
XM_011520237.2 265 Intron XP_011518539.1

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