RGD:15123590 Rat Genome Database

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Variant: RGD:15123590 -  Homo sapiens

RGD ID: 15123590
RS ID: rs755141415
ClinVar ID: CV740937
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GH-LCR  GH1  LOC112268204  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 61,995,197
GRCh38 17 63,917,837
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.11:g.63917837G>A
NC_000017.10:g.61995197G>A
NM_000515.4:c.379C>T
NP_072053.1:p.Leu112=
More... 		03/30/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GH1
Accession:NM_000515
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFEEAYIPKEQKYSFLQNPQTSLCF
SESIPTPSNREETQQKSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPR
TGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF*

Gene Symbol:GH1
Accession:NM_022560
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 87
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNLELLRISLLLIQSWLEPVQFLR
SVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTNSHNDDALLKNYGLLYCFRKDMDKVE
TFLRIVQCRSVEGSCGF*

Gene Symbol:GH1
Accession:NM_022559
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATGSRTSLLLAFGLLCLPWLQEGSAFPTIPLSRLFDNAMLRAHRLHQLAFDTYQEFNPQTSLCFSESIPTPSNREETQQ
KSNLELLRISLLLIQSWLEPVQFLRSVFANSLVYGASDSNVYDLLKDLEEGIQTLMGRLEDGSPRTGQIFKQTYSKFDTN
SHNDDALLKNYGLLYCFRKDMDKVETFLRIVQCRSVEGSCGF*

Gene Symbol:LOC112268204
Accession:XR_002958148
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000896438 CLINVAR
dbSNP (RS) rs755141415 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene 106128904 CLINVAR
  GH1 CLINVAR
OMIM 139250 CLINVAR