RGD:15168632 Rat Genome Database

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Variant: RGD:15168632 -  Homo sapiens

RGD ID: 15168632
RS ID: rs200683891
ClinVar ID: CV751250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IL7  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 79,710,343
GRCh38 8 78,798,108
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199886.2:c.111T>C
NM_000880.4:c.111T>C
NC_000008.11:g.78798108A>G
NC_000008.10:g.79710343A>G
More... 		06/13/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:IL7
Accession:NM_001199888
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHVSFRYIFGLPPLILVLLPVASSDCDIEGKDGKQYESVLMVSIDQLLDSMKEIGSNCLNNEFNFFKRHICDANKEENK
SLKEQKKLNDLCFLKRLLQEIKTCWNKILMGTKEH*

Gene Symbol:IL7
Accession:NM_001199886
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHVSFRYIFGLPPLILVLLPVASSDCDIEGKDGKQYESVLMVSIDQLLDSMKEIGSNCLNNEFNFFKRHICDANKVKGR
KPAALGEAQPTKSLEENKSLKEQKKLNDLCFLKRLLQEIKTCWNKILMGTKEH*

Gene Symbol:IL7
Accession:NM_001199887
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHVSFRYIFGLPPLILVLLPVASSDCDIEGKDGKQYESVLMVSIDQLLDSMKEIGSNCLNNEFNFFKRHICDANKEGMF
LFRAARKLRQFLKMNSTGDFDLHLLKVSEGTTILLNCTGQEENKSLKEQKKLNDLCFLKRLLQEIKTCWNKILMGTKEH*

Gene Symbol:IL7
Accession:NM_000880
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHVSFRYIFGLPPLILVLLPVASSDCDIEGKDGKQYESVLMVSIDQLLDSMKEIGSNCLNNEFNFFKRHICDANKEGMF
LFRAARKLRQFLKMNSTGDFDLHLLKVSEGTTILLNCTGQVKGRKPAALGEAQPTKSLEENKSLKEQKKLNDLCFLKRLL
QEIKTCWNKILMGTKEH*

Gene Symbol:IL7
Accession:XM_011517523
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHVSFRYIFGLPPLILVLLPVASSDCDIEGKDGKQYESVLMVSIDQLLDSMKEIGSNCLNNEFNFFKRHICDANKEGMF
LFRAARKLRQFLKMNSTGDFDLHLLKVSEGTTILLNCTGQVKGRKPAALGEAQPTKSLSLVK*

Gene Symbol:IL7
Accession:XM_011517522
Location:EXON
Amino Acid Prediction: Y to Y (synonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFHVSFRYIFGLPPLILVLLPVASSDCDIEGKDGKQYESVLMVSIDQLLDSMKEIGSNCLNNEFNFFKRHICDANKEGMF
LFRAARKLRQFLKMNSTGDFDLHLLKVSEGTTILLNCTGQVKGRKPAALGEAQPTKSLSSGLQKQFTFYRSNGRHTHSFH
CKLSFLH*

Gene Symbol:IL7
Accession:XM_047421768
Location:INTRON

Gene Symbol:IL7
Accession:XM_047421767
Location:INTRON

Gene Symbol:IL7
Accession:XM_047421765
Location:INTRON

Gene Symbol:IL7
Accession:XM_047421766
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000927333 CLINVAR
  RCV003970546 CLINVAR
dbSNP (RS) rs200683891 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene IL7 CLINVAR
OMIM 146660 CLINVAR