Product Details

SNP ID
rs112922714
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119589407 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGGCCCACTTGGCCTTCCTGTTTG[A/G]GCTGATCTAGTAGGTCTTCCTTCCG
Phenotype
MIM: 300440 MIM: 312180
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
NKRF PubMed Links

Gene Details

Gene
NKRF
Gene Name
NFKB repressing factor
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173487.1 2817 Missense Mutation CCC,CTC P688L NP_001166958.1
NM_001173488.1 2817 Missense Mutation CCC,CTC P673L NP_001166959.1
NM_017544.3 2817 Missense Mutation CCC,CTC P673L NP_060014.2
XM_011531365.2 2817 Missense Mutation CCC,CTC P673L XP_011529667.1
Gene
UBE2A
Gene Name
ubiquitin conjugating enzyme E2 A
There are no transcripts associated with this gene.

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