Product Details

SNP ID
rs144536074
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119589384 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTTGAGGCATAACAAGCTCGTAAT[A/G]GCCCACTTGGCCTTCCTGTTTGAGC
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 2840 Missense Mutation CAT,TAT H696Y NP_001166958.1
NM_001173488.1 2840 Missense Mutation CAT,TAT H681Y NP_001166959.1
NM_017544.3 2840 Missense Mutation CAT,TAT H681Y NP_060014.2
XM_011531365.2 2840 Missense Mutation CAT,TAT H681Y XP_011529667.1
Gene
UBE2A
Gene Name
ubiquitin conjugating enzyme E2 A
There are no transcripts associated with this gene.

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