RGD:8644894 Rat Genome Database

Variant: RGD:8644894 - Homo sapiens

RGD ID:

8644894

RS ID:

rs367543221

ClinVar ID:

CV104301

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IGSF22-AS1 PTPN5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	18,751,020
GRCh38	11	18,729,473

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
NC_000011.10:g.18729473C>T NC_000011.9:g.18751020C>T NP_001035059.1:p.Thr496= NP_001265167.1:p.Thr504= More...		synonymous variant	not provided	none provided

Variant Details

Variant Transcripts

Gene Symbol:	PTPN5
Accession:	NM_001278236
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	496

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFT YSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREE SAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSS YINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVAYDGVEITVQKVIHT EDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEEAAQQEGPHCAPIIVHCSAGIGRTGCFIATSIC CQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLSHQSPE*

Gene Symbol:	PTPN5
Accession:	NM_001039970
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	496

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFT YSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREE SAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSS YINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVAYDGVEITVQKVIHT EDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEEAAQQEGPHCAPIIVHCSAGIGRTGCFIATSIC CQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLSHQSPE*

Gene Symbol:	PTPN5
Accession:	XM_017018435
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	475

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTT LVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQ ERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIP GLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITN IEEMNEKCTEYWPEEQVAYDGVEITVQKVIHTEDYRLRLISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHMPAPSG QGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRMTALLLQGSLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPD PYPPALLFLLYILGSGGQGREGTCQARPGAPGPDPHHADPGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPD TVSPQPGRGNELQPLSNRTCLPRPHPHFSQKADDGELGMGSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	XM_017018437
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	443

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFT YSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREE SAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSS YINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVAYDGVEITVQKVIHT EDYRLRLISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHMPAPSGQGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRM TALLLQGSLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPDPYPPALLFLLYILGSGGQGREGTCQARPGAPG PDPHHADPGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPDTVSPQPGRGNELQPLSNRTCLPRPHPHFSQKA DDGELGMGSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	XM_017018434
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	475

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTT LVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQ ERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIP GLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITN IEEMNEKCTEYWPEEQVAYDGVEITVQKVIHTEDYRLRLISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHMPAPSG QGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRMTALLLQGSLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPD PYPPALLFLLYILGSGGQGREGTCQARPGAPGPDPHHADPGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPD TVSPQPGRGNELQPLSNRTCLPRPHPHFSQKADDGELGMGSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	NM_032781
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	528

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTT LVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQ ERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIP GLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITN IEEMNEKCTEYWPEEQVAYDGVEITVQKVIHTEDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEE AAQQEGPHCAPIIVHCSAGIGRTGCFIATSICCQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLS HQSPE*

Gene Symbol:	PTPN5
Accession:	XM_017018436
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	451

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLACGVLW FSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQS VSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFG YLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSP DPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVAYDGVEI TVQKVIHTEDYRLRLISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHMPAPSGQGRHDPDMRAVPVCAPRHEPLRKA AVPPVPRMTALLLQGSLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPDPYPPALLFLLYILGSGGQGREGTC QARPGAPGPDPHHADPGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPDTVSPQPGRGNELQPLSNRTCLPRP HPHFSQKADDGELGMGSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	NM_001278238
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	504

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLACGVLW FSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQS VSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFG YLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSP DPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVAYDGVEI TVQKVIHTEDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEEAAQQEGPHCAPIIVHCSAGIGRTG CFIATSICCQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLSHQSPE*

Gene Symbol:	PTPN5
Accession:	XM_017018439
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	419

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLEPTAWL DSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPV FDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALD PFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPI VSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVAYDGVEITVQKVIHTEDYRLRLISLKCRDWEDRLLHCHQ HLLPAAAAGGCGGHPEDHMPAPSGQGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRMTALLLQGSLGTAQPESRPSPRALP RVLGLLPASSPSVSSLCPLSAWPDPYPPALLFLLYILGSGGQGREGTCQARPGAPGPDPHHADPGLQFLTMVPSIPDPEC FRATLCVLLQCVLSVHPSLPSVPDTVSPQPGRGNELQPLSNRTCLPRPHPHFSQKADDGELGMGSSRRSPESFQLRESSL GWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	NM_006906
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	528

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTT LVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQ ERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIP GLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITN IEEMNEKCTEYWPEEQVAYDGVEITVQKVIHTEDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEE AAQQEGPHCAPIIVHCSAGIGRTGCFIATSICCQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLS HQSPE*

Gene Symbol:	PTPN5
Accession:	NM_001278239
Location:	EXON
Amino Acid Prediction:	T to T (synonymous)
Amino Acid Position:	472

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLEPTAWL DSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPV FDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALD PFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPI VSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVAYDGVEITVQKVIHTEDYRLRLISLKSGTEERGLKHYWF TSWPDQKTPDRAPPLLHLVREVEEAAQQEGPHCAPIIVHCSAGIGRTGCFIATSICCQQLRQEGVVDILKTTCQLRQDRG GMIQTCEQYQFVHHVMSLYEKQLSHQSPE*

Gene Symbol:	PTPN5
Accession:	XM_017018438
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	436

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNL VSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEE KIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLL SASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYI RGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVAYDGVEITVQKVIHTEDYRLRL ISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHMPAPSGQGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRMTALLLQG SLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPDPYPPALLFLLYILGSGGQGREGTCQARPGAPGPDPHHAD PGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPDTVSPQPGRGNELQPLSNRTCLPRPHPHFSQKADDGELGM GSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	IGSF22-AS1
Accession:	NR_186353
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000084699	CLINVAR
dbSNP (RS)	rs367543221	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	IGSF22-AS1	CLINVAR
	PTPN5	CLINVAR
OMIM	176879	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
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:8644894 - Homo sapiens