RGD:156065653 Rat Genome Database

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Variant: RGD:156065653 -  Homo sapiens

RGD ID: 156065653
ClinVar ID: CV2196969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VIPR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 42,555,292
GRCh38 3 42,513,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001251883.2:c.-189-5423G>A
NM_004624.4:c.130G>A
NM_001251884.2:c.44-5423G>A
NM_001251885.2:c.49G>A
More... 		07/05/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:VIPR1
Accession:NM_001251883
Location:5UTRS;INTRON

Gene Symbol:VIPR1
Accession:NM_004624
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPPSPLPARWLCVLAGALAWALGPAGGQAARLQEECDYVQMIKVQHKQCLEEAQLENETIGCSKMWDNLTCWPATPRGQ
VVVLACPLIFKLFSSIQGRNVSRSCTDEGWTHLEPGPYPIACGLDDKAASLDEQQTMFYGSVKTGYTIGYGLSLATLLVA
TAILSLFRKLHCTRNYIHMHLFISFILRAAAVFIKDLALFDSGESDQCSEGSVGCKAAMVFFQYCVMANFFWLLVEGLYL
YTLLAVSFFSERKYFWGYILIGWGVPSTFTMVWTIARIHFEDYGCWDTINSSLWWIIKGPILTSILVNFILFICIIRILL
QKLRPPDIRKSDSSPYSRLARSTLLLIPLFGVHYIMFAFFPDNFKPEVKMVFELVVGSFQGFVVAILYCFLNGEVQAELR
RKWRRWHLQGVLGWNPKYRHPSGGSNGATCSTQVSMLTRVSPGARRSSSFQAEVSLV*

Gene Symbol:VIPR1
Accession:XM_047448850
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPPSPLPARWLCVLAGALAWALGPAGGQAARLQEECDYVQMIKVQHKQCLEEAQLENETIGCSKMWDNLTCWPATPRGQ
VVVLACPLIFKLFSSIQGRNVSRSCTDEGWTHLEPGPYPIACGLDDKAASLDEQTMFYGSVKTGYTIGYGLSLATLLVAT
AILSLFRKLHCTRNYIHMHLFISFILRAAAVFIKDLALFDSGESDQCSEGSVGCKAAMVFFQYCVMANFFWLLVEGLYLY
TLLAVSFFSERKYFWGYILIGWGVPSTFTMVWTIARIHFEDYGCWDTINSSLWWIIKGPILTSILVNFILFICIIRILLQ
KLRPPDIRKSDSSPYSYASAAKPGSSRGHR*

Gene Symbol:VIPR1
Accession:NM_001251882
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIKVQHKQCLEEAQLENETIGCSKMWDNLTCWPATPRGQVVVLACPLIFKLFSSIQGRNVSRSCTDEGWTHLEPGPYPIA
CGLDDKAASLDEQQTMFYGSVKTGYTIGYGLSLATLLVATAILSLFRKLHCTRNYIHMHLFISFILRAAAVFIKDLALFD
SGESDQCSEGSVGCKAAMVFFQYCVMANFFWLLVEGLYLYTLLAVSFFSERKYFWGYILIGWGVPSTFTMVWTIARIHFE
DYGCWDTINSSLWWIIKGPILTSILVNFILFICIIRILLQKLRPPDIRKSDSSPYSRLARSTLLLIPLFGVHYIMFAFFP
DNFKPEVKMVFELVVGSFQGFVVAILYCFLNGEVQAELRRKWRRWHLQGVLGWNPKYRHPSGGSNGATCSTQVSMLTRVS
PGARRSSSFQAEVSLV*

Gene Symbol:VIPR1
Accession:NM_001251885
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAGRLQEECDYVQMIKVQHKQCLEEAQLENETIGCSKMWDNLTCWPATPRGQVVVLACPLIFKLFSSIQGRNVSRSCTD
EGWTHLEPGPYPIACGLDDKAASLDEQQTMFYGSVKTGYTIGYGLSLATLLVATAILSLFRKLHCTRNYIHMHLFISFIL
RAAAVFIKDLALFDSGESDQCSEGSVGCKAAMVFFQYCVMANFFWLLVEGLYLYTLLAVSFFSERKYFWGYILIGWGVPS
TFTMVWTIARIHFEDYGCWDTINSSLWWIIKGPILTSILVNFILFICIIRILLQKLRPPDIRKSDSSPYSRLARSTLLLI
PLFGVHYIMFAFFPDNFKPEVKMVFELVVGSFQGFVVAILYCFLNGEVQAELRRKWRRWHLQGVLGWNPKYRHPSGGSNG
ATCSTQVSMLTRVSPGARRSSSFQAEVSLV*

Gene Symbol:VIPR1
Accession:XM_005265437
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPPSPLPARWLCVLAGALAWALGPAGGQAARLQEECDYVQMIKVQHKQCLEEAQLENETIGCSKMWDNLTCWPATPRGQ
VVVLACPLIFKLFSSIQGRNVSRSCTDEGWTHLEPGPYPIACGLDDKAASLDEQTMFYGSVKTGYTIGYGLSLATLLVAT
AILSLFRKLHCTRNYIHMHLFISFILRAAAVFIKDLALFDSGESDQCSEGSVGCKAAMVFFQYCVMANFFWLLVEGLYLY
TLLAVSFFSERKYFWGYILIGWGVPSTFTMVWTIARIHFEDYGCWDTINSSLWWIIKGPILTSILVNFILFICIIRILLQ
KLRPPDIRKSDSSPYSRLARSTLLLIPLFGVHYIMFAFFPDNFKPEVKMVFELVVGSFQGFVVAILYCFLNGEVQAELRR
KWRRWHLQGVLGWNPKYRHPSGGSNGATCSTQVSMLTRVSPGARRSSSFQAEVSLV*

Gene Symbol:VIPR1
Accession:XM_011534080
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRPPSPLPARWLCVLAGALAWALGPAGGQAARLQEECDYVQMIKVQHKQCLEEAQLENETIGCSKMWDNLTCWPATPRGQ
VVVLACPLIFKLFSSIQGRNVSRSCTDEGWTHLEPGPYPIACGLDDKAASLDEQQTMFYGSVKTGYTIGYGLSLATLLVA
TAILSLFRKLHCTRNYIHMHLFISFILRAAAVFIKDLALFDSGESDQCSEGSVGCKAAMVFFQYCVMANFFWLLVEGLYL
YTLLAVSFFSERKYFWGYILIGWGVPSTFTMVWTIARIHFEDYGCWDTINSSLWWIIKGPILTSILVNFILFICIIRILL
QKLRPPDIRKSDSSPYSYASAAKPGSSRGHR*

Gene Symbol:VIPR1
Accession:XR_007095725
Location:EXON;NON-CODING

Gene Symbol:VIPR1
Accession:XR_940500
Location:EXON;NON-CODING

Gene Symbol:VIPR1
Accession:XM_047448851
Location:INTRON

Gene Symbol:VIPR1
Accession:XM_005265439
Location:INTRON

Gene Symbol:VIPR1
Accession:NM_001251884
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004071426 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene VIPR1 CLINVAR
OMIM 192321 CLINVAR