RGD:12848536 Rat Genome Database

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Variant: RGD:12848536 -  Homo sapiens

RGD ID: 12848536
RS ID: rs1057524907
ClinVar ID: CV380274
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: INS  INS-IGF2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 2,181,137
GRCh38 11 2,159,907
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007114.1:g.6288A>G
NC_000011.10:g.2159907T>C
NC_000011.9:g.2181137T>C
NP_000198.1:p.Glu93Gly
More... 		03/18/2016 intron variant|missense variant likely pathogenic|uncertain risk allele
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:INS
Accession:NM_001185097
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVAQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_000207
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVAQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_001185098
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVAQCCTSICSLYQLENYCN*

Gene Symbol:INS
Accession:NM_001291897
Location:EXON
Amino Acid Prediction: E to A (nonsynonymous)
Amino Acid Position: 93
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALWMRLLPLLALLALWGPDPAAAFVNQHLCGSHLVEALYLVCGERGFFYTPKTRREAEDLQVGQVELGGGPGAGSLQPL
ALEGSLQKRGIVAQCCTSICSLYQLENYCN*

Gene Symbol:INS-IGF2
Accession:NM_001042376
Location:INTRON

Gene Symbol:INS-IGF2
Accession:NR_003512
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11921414   PMID:17855560   PMID:18162506   PMID:18171712   PMID:18192540   PMID:20226046   PMID:25542748   PMID:25741868   PMID:26101329  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000445381 CLINVAR
  RCV003446061 CLINVAR
dbSNP (RS) rs1057524907 CLINVAR
MedGen C3150617 CLINVAR
  C3888631 CLINVAR
NCBI Gene INS CLINVAR
  INS-IGF2 CLINVAR
OMIM 176730 CLINVAR
  613370 CLINVAR