RGD:156399654 Rat Genome Database

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:

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

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 NP_067639.1:p.Glu355Lys More...	03/30/2022	missense variant	likely benign	AllHighlyPenetrant

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

ClinVar GRCh37	ClinVar GRCh38

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