RGD:156000998 Rat Genome Database

RGD:156000998 Rat Genome Database

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Variant: RGD:156000998 - Homo sapiens

RGD ID:

156000998

ClinVar ID:

CV2391838

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	17	55,074,386
GRCh38	17	56,997,025

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_021626.3:c.850T>G NC_000017.11:g.56997025T>G NC_000017.10:g.55074386T>G NM_021626.2:c.850T>G NP_067639.1:p.Ser284Ala More...	03/11/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	SCPEP1
Accession:	XM_005257557
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	284

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELALRRSPVPRWLLLLPLLLGLNAGAVIDWPTEEGKEVWDYVTVRKDAYMFWWLYYATNSCKNFSELPLVMWLQGGPGG SSTGFGNFEEIGPLDSDLKPRKTTWLQAASLLFVDNPVGTGFSYVNGSGAYAKDLAMVASDMMVLLKTFFSCHKEFQTVP FYIFSESYGGKMAAGIGLELYKAIQRGTIKCNFAGVALGDSWISPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVLNA VNKGLYREATELWGKAEMIIEQNTDGVNFYNILTKSTPTSTMEASLEFTQSHLGQATNVFVNMEEDFMKPVISIVDELLE AGINVTVYNGQLDLIVDTMGQEAWVRKLKWPELPKFSQLKWKALYSDPKSLETSAFVKSYKNLAFYWILKAGHMVPSDQG DMALKMMRLVTQQE*

Gene Symbol:	SCPEP1
Accession:	XM_047436509
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	284

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELALRRSPVPRWLLLLPLLLGLNAGAVIDWPTEEGKEVWDYVTVRKDAYMFWWLYYATNSCKNFSELPLVMWLQGGPGG SSTGFGNFEEIGPLDSDLKPRKTTWLQAASLLFVDNPVGTGFSYVNGSGAYAKDLAMVASDMMVLLKTFFSCHKEFQTVP FYIFSESYGGKMAAGIGLELYKAIQRGTIKCNFAGVALGDSWISPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVLNA VNKGLYREATELWGKAEMIIEQNTDGVNFYNILTKSTPTSTMEASLEFTQSHLAESETLPLAVQHPQQLGKDVLMARRGG SHL*

Gene Symbol:	RISC
Accession:	NM_021626
Location:	EXON
Amino Acid Prediction:	S to A (nonsynonymous)
Amino Acid Position:	284

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELALRRSPVPRWLLLLPLLLGLNAGAVIDWPTEEGKEVWDYVTVRKDAYMFWWLYYATNSCKNFSELPLVMWLQGGPGG SSTGFGNFEEIGPLDSDLKPRKTTWLQAASLLFVDNPVGTGFSYVNGSGAYAKDLAMVASDMMVLLKTFFSCHKEFQTVP FYIFSESYGGKMAAGIGLELYKAIQRGTIKCNFAGVALGDSWISPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVLNA VNKGLYREATELWGKAEMIIEQNTDGVNFYNILTKSTPTSTMEASLEFTQSHLVCLCQRHVRHLQRDALSQLMNGPIRKK LKIIPEDQSWGGQATNVFVNMEEDFMKPVISIVDELLEAGINVTVYNGQLDLIVDTMGQEAWVRKLKWPELPKFSQLKWK ALYSDPKSLETSAFVKSYKNLAFYWILKAGHMVPSDQGDMALKMMRLVTQQE*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004235715	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SCPEP1	CLINVAR
OMIM	619723	CLINVAR