Product Details

SNP ID
rs144614862
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:119591018 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGGTGCTTGGGGCAGGGTTCCCA[A/C]TGTCAAAATACATGTTGGCTGTTAC
Phenotype
MIM: 300440 MIM: 312180
Polymorphism
A/C, Transversion 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 1206 Missense Mutation AGT,ATT S151I NP_001166958.1
NM_001173488.1 1206 Missense Mutation AGT,ATT S136I NP_001166959.1
NM_017544.3 1206 Missense Mutation AGT,ATT S136I NP_060014.2
XM_011531365.2 1206 Missense Mutation AGT,ATT S136I XP_011529667.1
Gene
UBE2A
Gene Name
ubiquitin conjugating enzyme E2 A
There are no transcripts associated with this gene.

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