RGD:13530847 Rat Genome Database

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Variant: RGD:13530847 -  Homo sapiens

RGD ID: 13530847
RS ID: rs202220072
ClinVar ID: CV512627
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: G6PD  IKBKG  LOC108281126  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 153,770,497
GRCh38 X 154,542,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000402.4:c.210+3754C>T
NP_001093326.2:p.Val7Met
NC_000023.10:g.153770497G>A
NM_001099856.2:c.19G>A
More... 		02/28/2018 5 prime utr variant|missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IKBKG
Accession:NM_001321396
Location:5UTRS;EXON

Gene Symbol:IKBKG
Accession:NM_001377313
Location:5UTRS;INTRON

Gene Symbol:IKBKG
Accession:NM_001377312
Location:5UTRS;INTRON

Gene Symbol:IKBKG
Accession:NM_001099856
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 7
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALVIQLGKLRPREVRTPQTINPSLFPSLPVKLSSIIEVPSGGERCCSRRTLVYKARAFWKGAPLPCWMNRHLWKSQLCE
MVQPSGGPAADQDVLGEESPLGKPAMLHLPSEQGAPETLQRCLEENQELRDAIRQSNQILRERCEELLHFQASQREEKEF
LMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQQMAEDKASVKAQVTSLLGELQESQSRLEAATKECQALEG
RARAASEQARQLESEREALQQQHSVQVDQLRMQGQSVEAALRMERQAASEEKRKLAQLQVAYHQLFQEYDNHIKSSVVGS
ERKRGMQLEDLKQQLQQAEEALVAKQEVIDKLKEEAEQHKIVMETVPVLKAQADIYKADFQAERQAREKLAEKKELLQEQ
LEQLQREYSKLKASCQESARIEDMRKRHVEVSQAPLPPAPAYLSSPLALPSQRRSPPEEPPDFCCPKCQYQAPDMDTLQI
HVMECIE*

Gene Symbol:IKBKG
Accession:NM_001377314
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_003639
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001377315
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001099857
Location:INTRON

Gene Symbol:G6PD
Accession:NM_001042351
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001145255
Location:INTRON

Gene Symbol:G6PD
Accession:NM_001360016
Location:INTRON

Gene Symbol:G6PD
Accession:NM_000402
Location:INTRON

Gene Symbol:IKBKG
Accession:NM_001321397
Location:INTRON

Gene Symbol:IKBKG
Accession:NR_165197
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000622828 CLINVAR
  RCV000659189 CLINVAR
dbSNP (RS) rs202220072 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene G6PD CLINVAR
  IKBKG CLINVAR
  LOC108281126 CLINVAR
OMIM 300248 CLINVAR
  305900 CLINVAR