RGD:156189715 Rat Genome Database

RGD:156189715 Rat Genome Database

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Variant: RGD:156189715 - Homo sapiens

RGD ID:

156189715

ClinVar ID:

CV2255078

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	7	129,107,215
GRCh38	7	129,467,374

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001134336.2:c.1801G>C NM_020704.3:c.1801G>C NC_000007.14:g.129467374G>C NC_000007.13:g.129107215G>C More...	11/12/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	STRIP2
Accession:	NM_020704
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	601

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPAAPGTGGPPANGNGNGGGKGKQAAPKGREAFRSQRRESEGSVDCPTLEFEYGDADGHAAELSELYSYTENLEFTNN RRCFEEDFKTQVQGKEWLELEEDAQKAYIMGLLDRLEVVSRERRLKVARAVLYLAQGTFGECDSEVDVLHWSRYNCFLLY QMGTFSTFLELLHMEIDNSQACSSALRKPAVSIADSTELRVLLSVMYLMVENIRLERETDPCGWRTARETFRTELSFSMH NEEPFALLLFSMVTKFCSGLAPHFPIKKVLLLLWKVVMFTLGGFEHLQTLKVQKRAELGLPPLAEDSIQVVKSMRAASPP SYTLDLGESQLAPPPSKLRGRRGSRRQLLTKQDSLDIYNERDLFKTEEPATEEEEESAGDGERTLDGELDLLEQDPLVPP PPSQAPLSAERVAFPKGLPWAPKVRQKDIEHFLEMSRNKFIGFTLGQDTDTLVGLPRPIHESVKTLKQHKYISIADVQIK NEEELEKCPMSLGEEVVPETPCEILYQGMLYSLPQYMIALLKILLAAAPTSKAKTDSINILADVLPEEMPITVLQSMKLG IDVNRHKEIIVKSISTLLLLLLKHFKLNHIYQFEYVSQHLLFANCIPLILKFFNQNILSYITAKNSISVLDYPCCTIQDL PELTTESLEAGDNSQFCWRNLFSCINLLRLLNKLTKWKHSRTMMLVVFKSAPILKRALKVKQAMLQLYVLKLLKLQTKYL GRQWRKSNMKTMSAIYQKVRHRMNDDWAYGNDIDARPWDFQAEECTLRANIEAFNSRRYDRPQDSEFSPVDNCLQSVLGQ RLDLPEDFHYSYELWLEREVFSQPICWEELLQNH*

Gene Symbol:	STRIP2
Accession:	NM_001134336
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	601

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPAAPGTGGPPANGNGNGGGKGKQAAPKGREAFRSQRRESEGSVDCPTLEFEYGDADGHAAELSELYSYTENLEFTNN RRCFEEDFKTQVQGKEWLELEEDAQKAYIMGLLDRLEVVSRERRLKVARAVLYLAQGTFGECDSEVDVLHWSRYNCFLLY QMGTFSTFLELLHMEIDNSQACSSALRKPAVSIADSTELRVLLSVMYLMVENIRLERETDPCGWRTARETFRTELSFSMH NEEPFALLLFSMVTKFCSGLAPHFPIKKVLLLLWKVVMFTLGGFEHLQTLKVQKRAELGLPPLAEDSIQVVKSMRAASPP SYTLDLGESQLAPPPSKLRGRRGSRRQLLTKQDSLDIYNERDLFKTEEPATEEEEESAGDGERTLDGELDLLEQDPLVPP PPSQAPLSAERVAFPKGLPWAPKVRQKDIEHFLEMSRNKFIGFTLGQDTDTLVGLPRPIHESVKTLKQHKYISIADVQIK NEEELEKCPMSLGEEVVPETPCEILYQGMLYSLPQYMIALLKILLAAAPTSKAKTDSINILADVLPEEMPITVLQSMKLG IDVNRHKEIIVKSISTLLLLLLKHFKLNHIYQFEYVSQHLLFANCIPLILKFFNQNILSYITAKNSISVLDYPCCTIQDL PELTTESLEAGDNSQFCWRNLFSCINLLRLLNKLTKWKHSRTMMLVVFKSAPILKRALKVKQAMLQLYVLKLLKLQTKYL GRQWRKSNMKTMSAIYQKVRHRMNDDWAYGNGESSQSS*

Gene Symbol:	STRIP2
Accession:	XM_006716069
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	601

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPAAPGTGGPPANGNGNGGGKGKQAAPKGREAFRSQRRESEGSVDCPTLEFEYGDADGHAAELSELYSYTENLEFTNN RRCFEEDFKTQVQGKEWLELEEDAQKAYIMGLLDRLEVVSRERRLKVARAVLYLAQGTFGECDSEVDVLHWSRYNCFLLY QMGTFSTFLELLHMEIDNSQACSSALRKPAVSIADSTELRVLLSVMYLMVENIRLERETDPCGWRTARETFRTELSFSMH NEEPFALLLFSMVTKFCSGLAPHFPIKKVLLLLWKVVMFTLGGFEHLQTLKVQKRAELGLPPLAEDSIQVVKSMRAASPP SYTLDLGESQLAPPPSKLRGRRGSRRQLLTKQDSLDIYNERDLFKTEEPATEEEEESAGDGERTLDGELDLLEQDPLVPP PPSQAPLSAERVAFPKGLPWAPKVRQKDIEHFLEMSRNKFIGFTLGQDTDTLVGLPRPIHESVKTLKQHKYISIADVQIK NEEELEKCPMSLGEEVVPETPCEILYQGMLYSLPQYMIALLKILLAAAPTSKAKTDSINILADVLPEEMPITVLQSMKLG IDVNRHKEIIVKSISTLLLLLLKHFKLNHIYQFEYVSQHLLFANCIPLILKFFNQNILSYITAKNSISVLDYPCCTIQDL PELTTESLEAGDNSQFCWRNLFSCINLLRLLNKLTKWKHSRTMTSMPDHGTSKQKNVP*

Gene Symbol:	STRIP2
Accession:	XM_011516432
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	440

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGTFSTFLELLHMEIDNSQACSSALRKPAVSIADSTELRVLLSVMYLMVENIRLERETDPCGWRTARETFRTELSFSMHN EEPFALLLFSMVTKFCSGLAPHFPIKKVLLLLWKVVMFTLGGFEHLQTLKVQKRAELGLPPLAEDSIQVVKSMRAASPPS YTLDLGESQLAPPPSKLRGRRGSRRQLLTKQDSLDIYNERDLFKTEEPATEEEEESAGDGERTLDGELDLLEQDPLVPPP PSQAPLSAERVAFPKGLPWAPKVRQKDIEHFLEMSRNKFIGFTLGQDTDTLVGLPRPIHESVKTLKQHKYISIADVQIKN EEELEKCPMSLGEEVVPETPCEILYQGMLYSLPQYMIALLKILLAAAPTSKAKTDSINILADVLPEEMPITVLQSMKLGI DVNRHKEIIVKSISTLLLLLLKHFKLNHIYQFEYVSQHLLFANCIPLILKFFNQNILSYITAKNSISVLDYPCCTIQDLP ELTTESLEAGDNSQFCWRNLFSCINLLRLLNKLTKWKHSRTMMLVVFKSAPILKRALKVKQAMLQLYVLKLLKLQTKYLG RQWRKSNMKTMSAIYQKVRHRMNDDWAYGNDIDARPWDFQAEECTLRANIEAFNSRRYDRPQDSEFSPVDNCLQSVLGQR LDLPEDFHYSYELWLEREVFSQPICWEELLQNH*

Gene Symbol:	STRIP2
Accession:	XM_017012470
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	601

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDPAAPGTGGPPANGNGNGGGKGKQAAPKGREAFRSQRRESEGSVDCPTLEFEYGDADGHAAELSELYSYTENLEFTNN RRCFEEDFKTQVQGKEWLELEEDAQKAYIMGLLDRLEVVSRERRLKVARAVLYLAQGTFGECDSEVDVLHWSRYNCFLLY QMGTFSTFLELLHMEIDNSQACSSALRKPAVSIADSTELRVLLSVMYLMVENIRLERETDPCGWRTARETFRTELSFSMH NEEPFALLLFSMVTKFCSGLAPHFPIKKVLLLLWKVVMFTLGGFEHLQTLKVQKRAELGLPPLAEDSIQVVKSMRAASPP SYTLDLGESQLAPPPSKLRGRRGSRRQLLTKQDSLDIYNERDLFKTEEPATEEEEESAGDGERTLDGELDLLEQDPLVPP PPSQAPLSAERVAFPKGLPWAPKVRQKDIEHFLEMSRNKFIGFTLGQDTDTLVGLPRPIHESVKTLKQHKYISIADVQIK NEEELEKCPMSLGEEVVPETPCEILYQGMLYSLPQYMIALLKILLAAAPTSKAKTDSINILADVLPEEMPITVLQSMKLG IDVNRHKEIIVKSISTLLLLLLKHFKLNHIYQFEYVSQHLLFANCIPLILKFFNQNILSYITAKNSISVLDYPCCTIQDL PELTTESLSNKLHKKTCLNQVPVLMYHLSNQHML*

Gene Symbol:	STRIP2
Accession:	XM_017012471
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	363

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHNEEPFALLLFSMVTKFCSGLAPHFPIKKVLLLLWKVVMFTLGGFEHLQTLKVQKRAELGLPPLAEDSIQVVKSMRAAS PPSYTLDLGESQLAPPPSKLRGRRGSRRQLLTKQDSLDIYNERDLFKTEEPATEEEEESAGDGERTLDGELDLLEQDPLV PPPPSQAPLSAERVAFPKGLPWAPKVRQKDIEHFLEMSRNKFIGFTLGQDTDTLVGLPRPIHESVKTLKQHKYISIADVQ IKNEEELEKCPMSLGEEVVPETPCEILYQGMLYSLPQYMIALLKILLAAAPTSKAKTDSINILADVLPEEMPITVLQSMK LGIDVNRHKEIIVKSISTLLLLLLKHFKLNHIYQFEYVSQHLLFANCIPLILKFFNQNILSYITAKNSISVLDYPCCTIQ DLPELTTESLEAGDNSQFCWRNLFSCINLLRLLNKLTKWKHSRTMMLVVFKSAPILKRALKVKQAMLQLYVLKLLKLQTK YLGRQWRKSNMKTMSAIYQKVRHRMNDDWAYGNDIDARPWDFQAEECTLRANIEAFNSRRYDRPQDSEFSPVDNCLQSVL GQRLDLPEDFHYSYELWLEREVFSQPICWEELLQNH*

Gene Symbol:	STRIP2
Accession:	XM_047420657
Location:	EXON
Amino Acid Prediction:	V to L (nonsynonymous)
Amino Acid Position:	299

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFSQGLCSDSMFPEMWRPVDMGWPQTRMPRVRSLHAYPPFFPLQQLLTKQDSLDIYNERDLFKTEEPATEEEEESAGDGE RTLDGELDLLEQDPLVPPPPSQAPLSAERVAFPKGLPWAPKVRQKDIEHFLEMSRNKFIGFTLGQDTDTLVGLPRPIHES VKTLKQHKYISIADVQIKNEEELEKCPMSLGEEVVPETPCEILYQGMLYSLPQYMIALLKILLAAAPTSKAKTDSINILA DVLPEEMPITVLQSMKLGIDVNRHKEIIVKSISTLLLLLLKHFKLNHIYQFEYVSQHLLFANCIPLILKFFNQNILSYIT AKNSISVLDYPCCTIQDLPELTTESLEAGDNSQFCWRNLFSCINLLRLLNKLTKWKHSRTMMLVVFKSAPILKRALKVKQ AMLQLYVLKLLKLQTKYLGRQWRKSNMKTMSAIYQKVRHRMNDDWAYGNDIDARPWDFQAEECTLRANIEAFNSRRYDRP QDSEFSPVDNCLQSVLGQRLDLPEDFHYSYELWLEREVFSQPICWEELLQNH*

Gene Symbol:	STRIP2
Accession:	XM_011516435
Location:	INTRON

Gene Symbol:	STRIP2
Accession:	XM_047420656
Location:	INTRON

Gene Symbol:	STRIP2
Accession:	XR_927493
Location:	INTRON;NON-CODING

Gene Symbol:	STRIP2
Accession:	XR_001744840
Location:	INTRON;NON-CODING

Gene Symbol:	STRIP2
Accession:	XR_001744841
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004115713	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	STRIP2	CLINVAR
OMIM	617919	CLINVAR