RGD:13462885 Rat Genome Database

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Variant: RGD:13462885 -  Homo sapiens

RGD ID: 13462885
RS ID: rs62620015
ClinVar ID: CV438766
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HYI  LOC127268940  SZT2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,916,939
GRCh38 1 43,451,268
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031207.6:c.*42T>G
NM_001365999.1:c.*788A>C
NP_001317455.1:p.Asp293Glu
NG_029091.1:g.66384A>C
More... 		08/31/2017 3 prime utr variant|missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SZT2
Accession:NM_015284
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:NM_031207
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:NM_001243526
Location:3UTRS;EXON

Gene Symbol:SZT2
Accession:NM_001365999
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:XM_047431342
Location:3UTRS;EXON

Gene Symbol:HYI
Accession:NM_001190880
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 268
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSANLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRYAKALGCPRIHLMAGRVPQGADRIAVKAEMEAVFLENLRHAAGVLAQEDLVGLLEPINTRITDPQ
YFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQVPGRGEPSSPGELNFPYLFQLLEDE
GYKGFVGCEYQPRGDTVEGLSWLRSYWERRGHPEAGQ*

Gene Symbol:HYI
Accession:NM_001330526
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 293
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLRFSANLSWLFPELSGLPARVRAAGSSGFEAVEVAWPYAETPEALARAAREAGLRLVLINTPPGDQEKGEMGLGAVP
GRQAAFREGLEQAVRSGHCLMGRKLSVPCKGAVARGGLVYLAAFLRLDMIHLMAGRVPQGADRIAVKAEMEAVFLENLRH
AAGVLAQEDLVGLLEPINTRITDPQYFLDTPQQAAAILQKVGRPNLQLQMDIFHWQIMDGNLTGNIREFLPIVGHVQVAQ
VPGRGEPSSPGELNFPYLFQLLEDEGYKGFVGCEYQPRGDTVEGLSWLRSYWERRGHPEAGQ*

Gene Symbol:HYI
Accession:XM_006710937
Location:INTRON

Gene Symbol:HYI
Accession:XM_047431340
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000515007 CLINVAR
dbSNP (RS) rs62620015 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HYI CLINVAR
  SZT2 CLINVAR
OMIM 615463 CLINVAR
  619128 CLINVAR