RGD:15139312 Rat Genome Database

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Variant: RGD:15139312 -  Homo sapiens

RGD ID: 15139312
RS ID: rs555312351
ClinVar ID: CV766824
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IKBKB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 42,186,731
GRCh38 8 42,329,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190720.3:c.2012C>T
NG_041793.1:g.62912C>T
NC_000008.10:g.42186731C>T
NR_040009.2:n.2337C>T
More... 		11/08/2018 missense variant likely benign Immunodeficiency 15; IMMUNODEFICIENCY 15B
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IKBKB
Accession:NM_001556
Location:EXON

Gene Symbol:IKBKB
Accession:NM_001242778
Location:EXON

Gene Symbol:IKBKB
Accession:NM_001190720
Location:EXON

Gene Symbol:IKBKB
Accession:XM_011544517
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 735
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWSPSLTTQTCGAWEMKERLGTGGFGNVIRWHNQETGEQIAIKQCRQELSPRNRERWCLEIQIMRRLTHPNVVAARDVP
EGMQNLAPNDLPLLAMEYCQGGDLRKYLNQFENCCGLREGAILTLLSDIASALRYLHENRIIHRDLKPENIVLQQGEQRL
IHKIIDLGYAKELDQGSLCTSFVGTLQYLAPELLEQQKYTVTVDYWSFGTLAFECITGFRPFLPNWQPVQWHSKVRQKSE
VDIVVSEDLNGTVKFSSSLPYPNNLNSVLAERLEKWLQLMLMWHPRQRGTDPTYGPNGCFKALDDILNLKLVHILNMVTG
TIHTYPVTEDESLQSLKARIQQDTGIPEEDQELLQEAGLALIPDKPATQCISDGKLNEGHTLDMDLVFLFDNSKITYETQ
ISPRPQPESVSCILQEPKRNLAFFQLRKVWGQVWHSIQTLKEDCNRLQQGQRAAMMNLLRNNSCLSKMKNSMASMSQQLK
AKLDFFKTSIQIDLEKYSEQTEFGITSDKLLLAWREMEQAVELCGRENEVKLLVERMMALQTDIVDLQRSPMGRKQGGTL
DDLEEQARELYRRLREKPRDQRTEGDSQEMVRLLLQAIQSFEKKVRVIYTQLSKTVVCKQKALELLPKVEEVVSLMNEDE
KTVVRLQEKRQKELWNLLKIACSKVRGPVSGSPDSMNASRLSQPGQLMSQPSTASNSLPEPAKKSEELVAEAHNLCTLLE
NAIQDTVREQDQSFMVTACVRLLRFHVLSFYGKIEEKMEMQSGIILNLSVCLFACLFVTGSLSLTQAGVQWHDLGSLQPP
LPGFK*

Gene Symbol:IKBKB
Accession:XM_011544520
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 650
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRKLARHQYELVTFPDNADMWGLGNERAPWDRGIWKCHPMAQSASALRYLHENRIIHRDLKPENIVLQQGEQRLIHKII
DLGYAKELDQGSLCTSFVGTLQYLAPELLEQQKYTVTVDYWSFGTLAFECITGFRPFLPNWQPVQWHSKVRQKSEVDIVV
SEDLNGTVKFSSSLPYPNNLNSVLAERLEKWLQLMLMWHPRQRGTDPTYGPNGCFKALDDILNLKLVHILNMVTGTIHTY
PVTEDESLQSLKARIQQDTGIPEEDQELLQEAGLALIPDKPATQCISDGKLNEGHTLDMDLVFLFDNSKITYETQISPRP
QPESVSCILQEPKRNLAFFQLRKVWGQVWHSIQTLKEDCNRLQQGQRAAMMNLLRNNSCLSKMKNSMASMSQQLKAKLDF
FKTSIQIDLEKYSEQTEFGITSDKLLLAWREMEQAVELCGRENEVKLLVERMMALQTDIVDLQRSPMGRKQGGTLDDLEE
QARELYRRLREKPRDQRTEGDSQEMVRLLLQAIQSFEKKVRVIYTQLSKTVVCKQKALELLPKVEEVVSLMNEDEKTVVR
LQEKRQKELWNLLKIACSKVRGPVSGSPDSMNASRLSQPGQLMSQPSTASNSLPEPAKKSEELVAEAHNLCTLLENAIQD
TVREQDQSFMVTACVRLLRFHVLSFYGKIEEKMEMQSGIILNLSVCLFACLFVTGSLSLTQAGVQWHDLGSLQPPLPGFK
*

Gene Symbol:IKBKB
Accession:XM_047421762
Location:EXON

Gene Symbol:IKBKB
Accession:XM_047421758
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 685
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSWSPSLTTQTCGAWEMKERLGTGGFGNVIRWHNQETGEQIAIKQCRQELSPRNRERWCLEIQIMRRLTHPNVVAARDVP
EGMQNLAPNDLPLLAMEYCQGGDLRKYLNQFENCCGLREGAILTLLSDIASALRYLHENRIIHRDLKPENIVLQQGEQRD
MPRSWIRAVFAHHSWGPCSTWHSKVRQKSEVDIVVSEDLNGTVKFSSSLPYPNNLNSVLAERLEKWLQLMLMWHPRQRGT
DPTYGPNGCFKALDDILNLKLVHILNMVTGTIHTYPVTEDESLQSLKARIQQDTGIPEEDQELLQEAGLALIPDKPATQC
ISDGKLNEGHTLDMDLVFLFDNSKITYETQISPRPQPESVSCILQEPKRNLAFFQLRKVWGQVWHSIQTLKEDCNRLQQG
QRAAMMNLLRNNSCLSKMKNSMASMSQQLKAKLDFFKTSIQIDLEKYSEQTEFGITSDKLLLAWREMEQAVELCGRENEV
KLLVERMMALQTDIVDLQRSPMGRKQGGTLDDLEEQARELYRRLREKPRDQRTEGDSQEMVRLLLQAIQSFEKKVRVIYT
QLSKTVVCKQKALELLPKVEEVVSLMNEDEKTVVRLQEKRQKELWNLLKIACSKVRGPVSGSPDSMNASRLSQPGQLMSQ
PSTASNSLPEPAKKSEELVAEAHNLCTLLENAIQDTVREQDQSFMVTACVRLLRFHVLSFYGKIEEKMEMQSGIILNLSV
CLFACLFVTGSLSLTQAGVQWHDLGSLQPPLPGFK*

Gene Symbol:IKBKB
Accession:XM_047421757
Location:EXON

Gene Symbol:IKBKB
Accession:XM_047421759
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 676
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSDGTIRLTHPNVVAARDVPEGMQNLAPNDLPLLAMEYCQGGDLRKYLNQFENCCGLREGAILTLLSDIASALRYLHEN
RIIHRDLKPENIVLQQGEQRLIHKIIDLGYAKELDQGSLCTSFVGTLQYLAPELLEQQKYTVTVDYWSFGTLAFECITGF
RPFLPNWQPVQWHSKVRQKSEVDIVVSEDLNGTVKFSSSLPYPNNLNSVLAERLEKWLQLMLMWHPRQRGTDPTYGPNGC
FKALDDILNLKLVHILNMVTGTIHTYPVTEDESLQSLKARIQQDTGIPEEDQELLQEAGLALIPDKPATQCISDGKLNEG
HTLDMDLVFLFDNSKITYETQISPRPQPESVSCILQEPKRNLAFFQLRKVWGQVWHSIQTLKEDCNRLQQGQRAAMMNLL
RNNSCLSKMKNSMASMSQQLKAKLDFFKTSIQIDLEKYSEQTEFGITSDKLLLAWREMEQAVELCGRENEVKLLVERMMA
LQTDIVDLQRSPMGRKQGGTLDDLEEQARELYRRLREKPRDQRTEGDSQEMVRLLLQAIQSFEKKVRVIYTQLSKTVVCK
QKALELLPKVEEVVSLMNEDEKTVVRLQEKRQKELWNLLKIACSKVRGPVSGSPDSMNASRLSQPGQLMSQPSTASNSLP
EPAKKSEELVAEAHNLCTLLENAIQDTVREQDQSFMVTACVRLLRFHVLSFYGKIEEKMEMQSGIILNLSVCLFACLFVT
GSLSLTQAGVQWHDLGSLQPPLPGFK*

Gene Symbol:IKBKB
Accession:XM_047421763
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 525
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRSWIRAVFAHHSWGPCSTWHSKVRQKSEVDIVVSEDLNGTVKFSSSLPYPNNLNSVLAERLEKWLQLMLMWHPRQRGT
DPTYGPNGCFKALDDILNLKLVHILNMVTGTIHTYPVTEDESLQSLKARIQQDTGIPEEDQELLQEAGLALIPDKPATQC
ISDGKLNEGHTLDMDLVFLFDNSKITYETQISPRPQPESVSCILQEPKRNLAFFQLRKVWGQVWHSIQTLKEDCNRLQQG
QRAAMMNLLRNNSCLSKMKNSMASMSQQLKAKLDFFKTSIQIDLEKYSEQTEFGITSDKLLLAWREMEQAVELCGRENEV
KLLVERMMALQTDIVDLQRSPMGRKQGGTLDDLEEQARELYRRLREKPRDQRTEGDSQEMVRLLLQAIQSFEKKVRVIYT
QLSKTVVCKQKALELLPKVEEVVSLMNEDEKTVVRLQEKRQKELWNLLKIACSKVRGPVSGSPDSMNASRLSQPGQLMSQ
PSTASNSLPEPAKKSEELVAEAHNLCTLLENAIQDTVREQDQSFMVTACVRLLRFHVLSFYGKIEEKMEMQSGIILNLSV
CLFACLFVTGSLSLTQAGVQWHDLGSLQPPLPGFK*

Gene Symbol:IKBKB
Accession:NR_033818
Location:EXON;NON-CODING

Gene Symbol:IKBKB
Accession:NR_033819
Location:EXON;NON-CODING

Gene Symbol:IKBKB
Accession:NR_040009
Location:EXON;NON-CODING

Gene Symbol:IKBKB
Accession:XM_047421764
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421760
Location:INTRON

Gene Symbol:IKBKB
Accession:XM_047421761
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002545964 CLINVAR
dbSNP (RS) rs555312351 CLINVAR
MedGen C4747743 CLINVAR
NCBI Gene IKBKB CLINVAR
OMIM 603258 CLINVAR
  615592 CLINVAR