RGD:405759364 Rat Genome Database

RGD:405759364 Rat Genome Database

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Variant: RGD:405759364 - Homo sapiens

RGD ID:

405759364

ClinVar ID:

CV3314011

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	17	55,068,523
GRCh38	17	56,991,162

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_021626.3:c.610T>C NC_000017.11:g.56991162T>C NC_000017.10:g.55068523T>C NM_021626.2:c.610T>C NP_067639.1:p.Ser204Pro More...	12/16/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	RISC
Accession:	NM_021626
Location:	EXON
Amino Acid Prediction:	S to P (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELALRRSPVPRWLLLLPLLLGLNAGAVIDWPTEEGKEVWDYVTVRKDAYMFWWLYYATNSCKNFSELPLVMWLQGGPGG SSTGFGNFEEIGPLDSDLKPRKTTWLQAASLLFVDNPVGTGFSYVNGSGAYAKDLAMVASDMMVLLKTFFSCHKEFQTVP FYIFSESYGGKMAAGIGLELYKAIQRGTIKCNFAGVALGDSWIPPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVLNA VNKGLYREATELWGKAEMIIEQNTDGVNFYNILTKSTPTSTMESSLEFTQSHLVCLCQRHVRHLQRDALSQLMNGPIRKK LKIIPEDQSWGGQATNVFVNMEEDFMKPVISIVDELLEAGINVTVYNGQLDLIVDTMGQEAWVRKLKWPELPKFSQLKWK ALYSDPKSLETSAFVKSYKNLAFYWILKAGHMVPSDQGDMALKMMRLVTQQE*

Gene Symbol:	SCPEP1
Accession:	XM_005257557
Location:	EXON
Amino Acid Prediction:	S to P (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELALRRSPVPRWLLLLPLLLGLNAGAVIDWPTEEGKEVWDYVTVRKDAYMFWWLYYATNSCKNFSELPLVMWLQGGPGG SSTGFGNFEEIGPLDSDLKPRKTTWLQAASLLFVDNPVGTGFSYVNGSGAYAKDLAMVASDMMVLLKTFFSCHKEFQTVP FYIFSESYGGKMAAGIGLELYKAIQRGTIKCNFAGVALGDSWIPPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVLNA VNKGLYREATELWGKAEMIIEQNTDGVNFYNILTKSTPTSTMESSLEFTQSHLGQATNVFVNMEEDFMKPVISIVDELLE AGINVTVYNGQLDLIVDTMGQEAWVRKLKWPELPKFSQLKWKALYSDPKSLETSAFVKSYKNLAFYWILKAGHMVPSDQG DMALKMMRLVTQQE*

Gene Symbol:	SCPEP1
Accession:	XM_047436509
Location:	EXON
Amino Acid Prediction:	S to P (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MELALRRSPVPRWLLLLPLLLGLNAGAVIDWPTEEGKEVWDYVTVRKDAYMFWWLYYATNSCKNFSELPLVMWLQGGPGG SSTGFGNFEEIGPLDSDLKPRKTTWLQAASLLFVDNPVGTGFSYVNGSGAYAKDLAMVASDMMVLLKTFFSCHKEFQTVP FYIFSESYGGKMAAGIGLELYKAIQRGTIKCNFAGVALGDSWIPPVDSVLSWGPYLYSMSLLEDKGLAEVSKVAEQVLNA VNKGLYREATELWGKAEMIIEQNTDGVNFYNILTKSTPTSTMESSLEFTQSHLAESETLPLAVQHPQQLGKDVLMARRGG SHL*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004455026	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SCPEP1	CLINVAR
OMIM	619723	CLINVAR