RGD:156399654 Rat Genome Database

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Variant: RGD:156399654 -  Homo sapiens

RGD ID: 156399654
ClinVar ID: CV2202132
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCPEP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 55,078,284
GRCh38 17 57,000,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021626.3:c.1063G>A
NC_000017.11:g.57000923G>A
NC_000017.10:g.55078284G>A
NM_021626.2:c.1063G>A
More... 		03/30/2022 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SCPEP1
Accession:XM_005257557
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELALRRSPVPRWLLLLPLLLGLNAGAVIDWPTEEGKEVWDYVTVRKDAYMFWWLYYATNSCKNFSELPLVMWLQGGPGG
SSTGFGNFEEIGPLDSDLKPRKTTWLQAASLLFVDNPVGTGFSYVNGSGAYAKDLAMVASDMMVLLKTFFSCHKEFQTVP
FYIFSESYGGKMAAGIGLELYKAIQRGTIKCNFAGVALGDSWISPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVLNA
VNKGLYREATELWGKAEMIIEQNTDGVNFYNILTKSTPTSTMESSLEFTQSHLGQATNVFVNMEEDFMKPVISIVDKLLE
AGINVTVYNGQLDLIVDTMGQEAWVRKLKWPELPKFSQLKWKALYSDPKSLETSAFVKSYKNLAFYWILKAGHMVPSDQG
DMALKMMRLVTQQE*

Gene Symbol:RISC
Accession:NM_021626
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELALRRSPVPRWLLLLPLLLGLNAGAVIDWPTEEGKEVWDYVTVRKDAYMFWWLYYATNSCKNFSELPLVMWLQGGPGG
SSTGFGNFEEIGPLDSDLKPRKTTWLQAASLLFVDNPVGTGFSYVNGSGAYAKDLAMVASDMMVLLKTFFSCHKEFQTVP
FYIFSESYGGKMAAGIGLELYKAIQRGTIKCNFAGVALGDSWISPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVLNA
VNKGLYREATELWGKAEMIIEQNTDGVNFYNILTKSTPTSTMESSLEFTQSHLVCLCQRHVRHLQRDALSQLMNGPIRKK
LKIIPEDQSWGGQATNVFVNMEEDFMKPVISIVDKLLEAGINVTVYNGQLDLIVDTMGQEAWVRKLKWPELPKFSQLKWK
ALYSDPKSLETSAFVKSYKNLAFYWILKAGHMVPSDQGDMALKMMRLVTQQE*

Gene Symbol:SCPEP1
Accession:XM_047436509
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004078084 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SCPEP1 CLINVAR
OMIM 619723 CLINVAR