RGD:14734770 Rat Genome Database

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Variant: RGD:14734770 -  Homo sapiens

RGD ID: 14734770
RS ID: rs746250523
ClinVar ID: CV648929
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IFNAR2-IL10RB  IL10RB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 21 34,660,412
GRCh38 21 33,288,107
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000628.5:c.650C>T
LRG_152:g.26741C>T
NG_012089.1:g.26741C>T
NC_000021.9:g.33288107C>T
More... 		12/07/2018 missense variant uncertain significance Inflammatory bowel disease 25, autosomal recessive; Inflammatory bowel disease 25, early onset, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:IL10RB
Accession:NM_000628
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWSLGSWLGGCLLVSALGMVPPPENVRMNSVNFKNILQWESPAFAKGNLTFTAQYLSYRIFQDKCMNTTLTECDFSSLS
KYGDHTLRVRAEFADEHSDWVNITFCPVDDTIIGPPGMQVEVLADSLHMRFLAPKIENEYETWTMKNVYNSWTYNVQYWK
NGTDEKFQITPQYDFEVLRNLEPWTTYCVQVRGFLPDRNKAGEWSEPVCEQTTHDEMVPSWMVAVILMASVFMVCLALLG
CFALLWCVYKKTKYAFSPRNSLPQHLKEFLGHPHHNTLLFFSFPLSDENDVFDKLSVIAEDSESGKQNPGDSCSLGTPPG
QGPQS*

Gene Symbol:IFNAR2-IL10RB
Accession:NM_001414505
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 437
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLLSQNAFIFRSLNLVLMVYISLVFGISYDSPDYTDESCTFKISLRNFRSILSWELKNHSIVPTHYTLLYTIMSKPEDLK
VVKNCANTTRSFCDLTDEWRSTHEAYVTVLEGFSGNTTLFSCSHNFWLAIDMSFEPPEFEIVGFTNHINVMVKFPSIVEE
ELQFDLSLVIEEQSEGIVKKHKPEIKGNMSGNFTYIIDKLIPNTNYCVSVYLEHSDEQAVIKSPLKCTLLPPGQESALGM
VPPPENVRMNSVNFKNILQWESPAFAKGNLTFTAQYLSYRIFQDKCMNTTLTECDFSSLSKYGDHTLRVRAEFADEHSDW
VNITFCPVDDTIIGPPGMQVEVLADSLHMRFLAPKIENEYETWTMKNVYNSWTYNVQYWKNGTDEKFQITPQYDFEVLRN
LEPWTTYCVQVRGFLPDRNKAGEWSEPVCEQTTHDEMVPSWMVAVILMASVFMVCLALLGCFALLWCVYKKTKYAFSPRN
SLPQHLKEFLGHPHHNTLLFFSFPLSDENDVFDKLSVIAEDSESGKQNPGDSCSLGTPPGQGPQS*

Gene Symbol:IL10RB
Accession:NM_001405849
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWSLGSWLGGCLLVSALGMVPPPENVRMNSVNFKNILQWESPAFAKGNLTFTAQYLSYRIFQDKCMNTTLTECDFSSLS
KYGDHTLRVRAEFADEHSDWVNITFCPVDDTIIGPPGMQVEVLADSLHMRFLAPKIENEYETWTMKNVYNSWTYNVQYWK
NGTDEKFQITPQYDFEVLRNLEPWTTYCVQVRGFLPDRNKAGEWSEPVCEQTTHDEMVPSWMVAVILMASVFMVCLALLG
CFALLWCVYKKTKYAFSPRNSLPQHLKEE*

Gene Symbol:IL10RB
Accession:NM_001405850
Location:EXON
Amino Acid Prediction: T to M (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAWSLGSWLGGCLLVSALGMVPPPENVRMNSVNFKNILQWESPAFAKGNLTFTAQYLSYRIFQDKCMNTTLTECDFSSLS
KYGDHTLRVRAEFADEHSDWVNITFCPVDDTIIGPPGMQVEVLADSLHMRFLAPKIENEYETWTMKNVYNSWTYNVQYWK
NGTDEKFQITPQYDFEVLRNLEPWTTYCVQVRGFLPDRNKAGEWSEPVCEQTTHDEMVPSWMVAVILMASVFMVCLALLG
CFALLWCVYKKTKYAFSPRNSLPQHLKELSGINFSTSQKHFGPQIPKGTLFFILENTMPTYQNKGQIGAFASK*

Gene Symbol:IL10RB
Accession:NR_175973
Location:EXON;NON-CODING

Gene Symbol:IL10RB
Accession:NM_001406840
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000819286 CLINVAR
dbSNP (RS) rs746250523 CLINVAR
MedGen C2675508 CLINVAR
NCBI Gene IFNAR2-IL10RB CLINVAR
  IL10RB CLINVAR
OMIM 123889 CLINVAR
  612567 CLINVAR