RGD:26885891 Rat Genome Database

Variant: RGD:26885891 - Homo sapiens

RGD ID:

26885891

RS ID:

rs1676311757

ClinVar ID:

CV827089

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

REEP1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	86,479,156
GRCh38	2	86,252,033

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001164732.2:c.182+11932G>A NM_001371279.1:c.341G>A NM_001371280.1:c.341G>A NM_022912.3:c.341G>A More...	01/21/2019	intron variant	uncertain significance	Spastic paraplegia 31, autosomal dominant

Disease Annotations Click to see Annotation Detail View

hereditary spastic paraplegia 31 (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	REEP1
Accession:	XM_005264504
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDAL VHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSS VCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKAPRRMELPLEAPPRILRSRFRKKSTSS SATETT*

Gene Symbol:	REEP1
Accession:	XM_017004725
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFV AWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSM QDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLD FMYKYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	NM_001371280
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKAPPRILRSRFRKKSTSSSATE TT*

Gene Symbol:	REEP1
Accession:	NM_001410855
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKA PRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	NM_022912
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	XM_017004726
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFV AWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSM QDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKGTA*

Gene Symbol:	REEP1
Accession:	XM_011533044
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	108

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCLLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSL LYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPA PSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDF MYKYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	NM_001371279
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEE EDLLDFMYKYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKGTA*

Gene Symbol:	REEP1
Accession:	XM_047445537
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDAL VHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSS VCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKAPRRMELPLEAPPRILRSRFRKKSTSS SATETT*

Gene Symbol:	REEP1
Accession:	XM_017004727
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVAMTPPRPCRRAQSHLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFV AWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSM QDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMYKYKA PRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	NM_001164731
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	87

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDHLQAGGVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCL VQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKM SRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	XM_047445536
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	108

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCLLGLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSL LYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPA PSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	NM_001410856
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSWIISRLVVLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPY TKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIR GDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKGTA*

Gene Symbol:	REEP1
Accession:	NM_001164730
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	121

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQKVLSNGQTEEVRSGSRLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFV AWLLSPYTKGSSLLYRKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSM QDLTTIRGDGAPAPSGPPPPGSGRASGKHGQPKMSRSASESASSSGTA*

Gene Symbol:	REEP1
Accession:	XM_011533045
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	106

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRRLIFGTLYPAYYSYKAVKSKDIKEYVKWMMYWIIFALFTTAETFTDIFLCWFPFYYELKIAFVAWLLSPYTKGSSLLY RKFVHPTLSSKEKEIDDCLVQAKDRNYDALVHFGKRGLNVAATAAVMAASKGQGALSERLRSFSMQDLTTIRGDGAPAPS GPPPPGSGRASGKHGQPKMSRSASESASSSVCTCCSTCRTWKVVEGDVNEGGMKAWEPHQVQNPLAFSDDEEEDLLDFMY KYKAPRRMELPLEAPPRILRSRFRKKSTSSSATETT*

Gene Symbol:	REEP1
Accession:	NM_001164732
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001043828	CLINVAR
dbSNP (RS)	rs1676311757	CLINVAR
MedGen	C1853247	CLINVAR
NCBI Gene	REEP1	CLINVAR
OMIM	609139	CLINVAR
	610250	CLINVAR

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Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:26885891 - Homo sapiens

Imported Disease Annotations - ClinVar