RGD:405780075 Rat Genome Database

RGD:405780075 Rat Genome Database

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Variant: RGD:405780075 - Homo sapiens

RGD ID:

405780075

ClinVar ID:

CV3330925

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	7	129,125,477
GRCh38	7	129,485,636

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_020704.3:c.2312T>C NC_000007.14:g.129485636T>C NC_000007.13:g.129125477T>C NM_020704.2:c.2312T>C NP_065755.1:p.Ile771Thr More...	01/31/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	STRIP2
Accession:	XM_006716069
Location:	3UTRS;EXON

Gene Symbol:	STRIP2
Accession:	NM_020704
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	771

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

Gene Symbol:	STRIP2
Accession:	XM_011516432
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	610

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

Gene Symbol:	STRIP2
Accession:	XM_017012471
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	533

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

Gene Symbol:	STRIP2
Accession:	XM_047420657
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	469

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

Gene Symbol:	STRIP2
Accession:	NM_001134336
Location:	INTRON

Gene Symbol:	STRIP2
Accession:	XM_011516435
Location:	INTRON

Gene Symbol:	STRIP2
Accession:	XM_017012470
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	RCV004458503	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	STRIP2	CLINVAR
OMIM	617919	CLINVAR