RGD:15134501 Rat Genome Database

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Variant: RGD:15134501 -  Homo sapiens

RGD ID: 15134501
RS ID: rs1032078461
ClinVar ID: CV768286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYLS1  PUS3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 125,764,022
GRCh38 11 125,894,127
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145014.3:c.-81+2655T>C
NM_001271985.2:c.480A>G
NM_001134793.2:c.-26+2655T>C
NC_000011.9:g.125764022T>C
More... 		08/16/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PUS3
Accession:XM_005271688
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:HYLS1
Accession:NM_001134793
Location:5UTRS;INTRON

Gene Symbol:HYLS1
Accession:NM_001377269
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:HYLS1
Accession:NM_145014
Location:5UTRS;INTRON

Gene Symbol:HYLS1
Accession:NM_001424364
Location:5UTRS;INTRON

Gene Symbol:
Accession:
Location:5UTRS;INTRON

Gene Symbol:HYLS1
Accession:NM_001377270
Location:5UTRS;INTRON

Gene Symbol:PUS3
Accession:NM_031307
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 368
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAYNDTDRNQTEKLLKRVRELEQEVQRLKKEQAKNKEDSNIRENSAGAGKTKRAFDFSAHGRRHVALRIAYMGWGYQGFA
SQENTNNTIEEKLFEALTKTRLVESRQTSNYHRCGRTDKGVSAFGQVISLDLRSQFPRGRDSEDFNVKEEANAAAEEIRY
THILNRVLPPDIRILAWAPVEPSFSARFSCLERTYRYFFPRADLDIVTMDYAAQKYVGTHDFRNLCKMDVANGVINFQRT
ILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFLIGQGMEKPEIIDELLNIEKNPQKPQYSMAVEF
PLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQGLDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTS
AFVEGVKMRTYKPLMDRPKCQGLESRIQHFVRRGRIEHPHLFHEEETKAKRDCNDTLEEENTNLETPTKRVCVDTEIKSI
I*

Gene Symbol:PUS3
Accession:NM_001271985
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDYAAQKYVGTHDFRNLCKMDVANGVINFQRTILSAQVQLVGQSPGEGRWQEPFQLCQFEVTGQAFLYHQVRCMMAILFL
IGQGMEKPEIIDELLNIEKNPQKPQYSMAVEFPLVLYDCKFENVKWIYDQEAQEFNITHLQQLWANHAVKTHMLYSMLQG
LDTVPVPCGIGPKMDGMTEWGNVKPSVIKQTSAFVEGVKMRTYKPLMDRPKCQGLESRIQHFVRRGRIEHPHLFHEEETK
AKRDCNDTLEEENTNLETPTKRVCVDTEIKSII*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000942756 CLINVAR
dbSNP (RS) rs1032078461 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene HYLS1 CLINVAR
  PUS3 CLINVAR
OMIM 610693 CLINVAR
  616283 CLINVAR