RGD:8557443 Rat Genome Database

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Variant: RGD:8557443 -  Homo sapiens

RGD ID: 8557443
RS ID: rs121907921
ClinVar ID: CV18512
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PAX6  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 31,823,441
GRCh38 11 31,801,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008679.1:g.21069T>A
NC_000011.10:g.31801893A>T
NC_000011.9:g.31823441A>T
NP_001595.2:p.Val54Asp
More... 		06/16/2015 5 prime utr variant|intron|intron variant|missense variant pathogenic neonatal/infancy <1 / 1 000 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PAX6
Accession:NM_001368905
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001310161
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368908
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368900
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368903
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001310160
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368929
Location:5UTRS;EXON

Gene Symbol:PAX6
Accession:NM_001368899
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368902
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368907
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368901
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368904
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368909
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368906
Location:5UTRS;INTRON

Gene Symbol:PAX6
Accession:NM_001368911
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHKGHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGS
IRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDK
LRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEAL
EKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTP
VSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYC
VNSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLY
VIMKKRTM*

Gene Symbol:PAX6
Accession:NM_001604
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368923
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258462
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001258463
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368927
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368918
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKDQ
VLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS
SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQ
MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT
PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS
PSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368926
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368893
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368924
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368912
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV
NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV
IMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368925
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368913
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV
NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV
IMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368919
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQVILPAPPHSPPPRPSTLNALSSFLTTHADAKDQ
VLDNQNVSNGCVSKILGRYYETGSIRPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVS
SINRVLRNLASEKQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQ
MRLQLKRKLQRNRTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNT
PSHIPISSSFSTSVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTS
PSVNGRSYDTYTPPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368914
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSKKKKKKKKERKYCV
NSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFIHFGVLFVNGHLYV
IMKKRTM*

Gene Symbol:PAX6
Accession:NM_001368894
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368922
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYT
PPHMQTHMNSQPMGTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368892
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001310158
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSKILGRYYETGSI
RPRAIGGSKPRVATPEVVSKIAQYKRECPSIFAWEIRDRLLSEGVCTNDNIPSVSSINRVLRNLASEKQQMGADGMYDKL
RMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRNRTSFTQEQIEALE
KEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFSTSVYQPIPQPTTPV
SSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQPPVPSQTSSYSCMLPTSPSVNGRSYDTYTPPHMQTHMNSQPM
GTSGTTSTGLISPGVSVPVQVPGSEPDMSQYWPRLQ*

Gene Symbol:PAX6
Accession:NM_001368921
Location:EXON
Amino Acid Prediction: V to D (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQNSHSGVNQLGGVFVNGRPLPDSTRQKIVELAHSGARPCDISRILQTHADAKDQVLDNQNVSNGCVSSINRVLRNLASE
KQQMGADGMYDKLRMLNGQTGSWGTRPGWYPGTSVPGQPTQDGCQQQEGGGENTNSISSNGEDSDEAQMRLQLKRKLQRN
RTSFTQEQIEALEKEFERTHYPDVFARERLAAKIDLPEARIQVWFSNRRAKWRREEKLRNQRRQASNTPSHIPISSSFST
SVYQPIPQPTTPVSSFTSGSMLGRTDTALTNTYSALPPMPSFTMANNLPMQDSFPLVCQFQFKFPEVNLICLNTGQDYSK
KKKKKKKERKYCVNSVSDYGDTTVELSGKKEKWLLEPLQFYNCVLYCTTGEGMDLKQGPLYTEGTISVGTNLHFGIQTFI
HFGVLFVNGHLYVIMKKRTM*

Gene Symbol:PAX6
Accession:NR_160916
Location:EXON;NON-CODING

Gene Symbol:PAX6
Accession:NM_001368888
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001127612
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368916
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001310159
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368915
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258464
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368889
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001258465
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368891
Location:INTRON

Gene Symbol:PAX6
Accession:NM_000280
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368887
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368920
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368890
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368910
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368917
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368928
Location:INTRON

Gene Symbol:PAX6
Accession:NM_001368930
Location:INTRON

Gene Symbol:PAX6
Accession:NR_160917
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:10441571  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000003638 CLINVAR
  RCV000128793 CLINVAR
dbSNP (RS) rs121907921 CLINVAR
MedGen C4017657 CLINVAR
  C4310884 CLINVAR
NCBI Gene PAX6 CLINVAR
OMIM 607108 CLINVAR
OMIM Allele 607108.0015 CLINVAR