RGD:10050771 Rat Genome Database

Variant: RGD:10050771 - Homo sapiens

RGD ID:

10050771

RS ID:

rs794727282

ClinVar ID:

CV192423

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RP1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	55,533,731
GRCh38	8	54,621,171

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_000008.11:g.54621171A>T NC_000008.10:g.55533731A>T NP_006260.1:p.Asn69Tyr NM_006269.2:c.205A>T More...	12/23/2019	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	RP1
Accession:	XM_047422069
Location:	EXON
Amino Acid Prediction:	N to Y (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDYLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIR IGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETES EVFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFT CQRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKH QLFNPNTADIFKINLKDIGEIYKIRIGHDNTGKNPRWYLEEVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPK KAPLPVVLYEIRIYTGTMTGAETESNVFINLIGTRGDSGKRRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDG TGPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWLDEYQDDGKTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	XM_047422073
Location:	EXON
Amino Acid Prediction:	N to Y (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDYLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIR IGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETES EVFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFT CQRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKH QLFNPNTADIFKVPWKANECCW*

Gene Symbol:	RP1
Accession:	NM_001375654
Location:	EXON
Amino Acid Prediction:	N to Y (nonsynonymous)
Amino Acid Position:	69

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDYLSRKVPLPFGV RNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPPRSLVVFR NGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYDIQKYLLP ARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHEDIFTITV GDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTIYEVNVAT GELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFLDDVVIKD PTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSARQKLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDG TVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALDNGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVF DRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATSLCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESV KNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLESTKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRE NPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTAKEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGD KGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIRIGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQ ADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETESEVFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAV SLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFTCQRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGD WKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKHQLFNPNTADIFKINLKDIGEIYKIRIGHDNTGKNPRWYLE EVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPKKAPLPVVLYEIRIYTGTMTGAETESNVFINLIGTRGDSGK RRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDGTGPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWLDEYQDDG KTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	XM_047422072
Location:	EXON
Amino Acid Prediction:	N to Y (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDYLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSARQKLELKRKETWTAESWKFTKGNTLQFYNKLTGGF VRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALDNGIVTGMVSGEATTELRVLYQPNRCALLESALV PGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATSLCQALCLQPDGSCTGVGSQSEKSYWKVHKISSG ICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLESTKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQ VIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTAKEIRHFQSSETLLSEDEWKVLVLTGNTGTQANV TLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIRIGHDGTSEQPEWNLQRVTMQHMKSKKILDFAAN VWLSRIQADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETESEVFLCLFGERGDSGLRQLYKSNMQVKFQRGQID KFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFTCQRWLPFMSQGIIHSEIELYLQEMQINHQPKIQ EEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKHQLFNPNTADIFKINLKDIGEIYKIRIGHDNTGK NPRWYLEEVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPKKAPLPVVLYEIRIYTGTMTGAETESNVFINLIG TRGDSGKRRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDGTGPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWL DEYQDDGKTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	NM_006269
Location:	EXON
Amino Acid Prediction:	N to Y (nonsynonymous)
Amino Acid Position:	69

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDYLSRKVPLPFGV RNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPPRSLVVFR NGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYDIQKYLLP ARLPGISQRVYPKGNAKSESRKISTHMSSSSRSQIYSVSSEKTHNNDCYLDYSFVPEKYLALEKNDSQNLPIYPSEDDIE KSIIFNQDGTMTVEMKVRFRIKEEETIKWTTTVSKTGPSNNDEKSEMSFPGRTESRSSGLKLAACSFSADVSPMERSSNQ EGSLAEEINIQMTDQVAETCSSASWENATVDTDIIQGTQDQAKHRFYRPPTPGLRRVRQKKSVIGSVTLVSETEVQEKMI GQFSYSEERESGENKSEYHMFTHSCSKMSSVSNKPVLVQINNNDQMEESSLERKKENSLLKSSAISAGVIEITSQKMLEM SHNNGLPSTISNNSIVEEDVVDCVVLDNKTGIKNFKTYGNTNDRFSPISADATHFSSNNSGTDKNISEAPASEASSTVTA RIDRLINEFAQCGLTKLPKNEKKILSSVASKKKKKSRQQAINSRYQDGQLATKGILNKNERINTKGRITKEMIVQDSDSP LKGGILCEEDLQKSDTVIESNTFCSKSNLNSTISKNFHRNKLNTTQNSKVQGLLTKRKSRSLNKISLGAPKKREIGQRDK VFPHNESKYCKSTFENKSLFHVFNILEQKPKDFYAPQSQAEVASGYLRGMAKKSLVSKVTDSHITLKSQKKRKGDKVKAS AILSKQHATTRANSLASLKKPDFPEAIAHHSIQNYIQSWLQNINPYPTLKPIKSAPVCRNETSVVNCSNNSFSGNDPHTN SGKISNFVMESNKHITKIAGLTGDNLCKEGDKSFIANDTGEEDLHETQVGSLNDAYLVPLHEHCTLSQSAINDHNTKSHI AAEKSGPEKKLVYQEINLARKRQSVEAAIQVDPIEEETPKDLLPVLMLHQLQASVPGIHKTQNGVVQMPGSLAGVPFHSA ICNSSTNLLLAWLLVLNLKGSMNSFCQVDAHKATNKSSETLALLEILKHIAITEEADDLKAAVANLVESTTSHFGLSEKE QDMVPIDLSANCSTVNIQSVPKCSENERTQGISSLDGGCSASEACAPEVCVLEVTCSPCEMCTVNKAYSPKETCNPSDTF FPSDGYGVDQTSMNKACFLGEVCSLTDTVFSDKACAQKENHTYEGACPIDETYVPVNVCNTIDFLNSKENTYTDNLDSTE ELERGDDIQKDLNILTDPEYKNGFNTLVSHQNVSNLSSCGLCLSEKEAELDKKHSSLDDFENCSLRKFQDENAYTSFDME EPRTSEEPGSITNSMTSSERNISELESFEELENHDTDIFNTVVNGGEQATEELIQEEVEASKTLELIDISSKNIMEEKRM NGIIYEIISKRLATPPSLDFCYDSKQNSEKETNEGETKMVKMMVKTMETGSYSESSPDLKKCIKSPVTSDWSDYRPDSDS EQPYKTSSDDPNDSGELTQEKEYNIGFVKRAIEKLYGKADIIKPSFFPGSTRKSQVCPYNSVEFQCSRKASLYDSEGQSF GSSEQVSSSSSMLQEFQEERQDKCDVSAVRDNYCRGDIVEPGTKQNDDSRILTDIEEGVLIDKGKWLLKENHLLRMSSEN PGMCGNADTTSVDTLLDNNSSEVPYSHFGNLAPGPTMDELSSSELEELTQPLELKCNYFNMPHGSDSEPFHEDLLDVRNE TCAKERIANHHTEEKGSHQSERVCTSVTHSFISAGNKVYPVSDDAIKNQPLPGSNMIHGTLQEADSLDKLYALCGQHCPI LTVIIQPMNEEDRGFAYRKESDIENFLGFYLWMKIHPYLLQTDKNVFREENNKASMRQNLIDNAIGDIFDQFYFSNTFDL MGKRRKQKRINFLGLEEEGNLKKFQPDLKERFCMNFLHTSLLVVGNVDSNTQDLSGQTNEIFKAVDENNNLLNNRFQGSR TNLNQVVRENINCHYFFEMLGQACLLDICQVETSLNISNRNILELCMFEGENLFIWEEEDILNLTDLESSREQEDL*

Gene Symbol:	RP1
Accession:	XM_047422071
Location:	EXON
Amino Acid Prediction:	N to Y (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDYLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIRI GHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPLVRYQVDVYTGQLKHAETESE VFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFTC QRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKHQ LFNPNTADIFKINLKDIGEIYKIRIGHDNTGKNPRWYLEEVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPKK APLPVVLYEIRIYTGTMTGAETESNVFINLIGTRGDSGKRRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDGT GPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWLDEYQDDGKTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	XM_047422070
Location:	EXON
Amino Acid Prediction:	N to Y (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDYLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIR IGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPLRYQVDVYTGQLKHAETESE VFLCLFGERGDSGLRQLYKSNMQVKFQRGQIDKFQVAAVSLGKLQKVLLRCEASDKSQYWYCEQVIVREPGTTSESIFTC QRWLPFMSQGIIHSEIELYLQEMQINHQPKIQEEANDGDWKVTIVTGDLENAGTTATVFLYVYGETKCSGPIILGSGKHQ LFNPNTADIFKINLKDIGEIYKIRIGHDNTGKNPRWYLEEVRLENIATYELFCLPVDSWIAENENDGDLWKEIPIMGPKK APLPVVLYEIRIYTGTMTGAETESNVFINLIGTRGDSGKRRLHQSKNNEIKFQRGQVDIFSIKAVSLGKLKKVLISHDGT GPGNGWFLGSIVVKSEDEDSSEEVLFLCNRWLDEYQDDGKTQRELLAESSPSAVGETGSTIS*

Gene Symbol:	RP1
Accession:	XM_047422074
Location:	EXON
Amino Acid Prediction:	N to Y (nonsynonymous)
Amino Acid Position:	76

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVQVSAKMSDTPSTGFSIIHPTSSEGQVPPPRHLSLTHPVVAKRISFYKSGDPQFGGVRVVVNPRSFKSFDALLDYLSRK VPLPFGVRNISTPRGRHSITRLEELEDGESYLCSHGRKVQPVDLDKARRRPRPWLSSRAISAHSPPHPVAVAAPGMPRPP RSLVVFRNGDPKTRRAVLLSRRVTQSFEAFLQHLTEVMQRPVVKLYATDGRRVPSLQAVILSSGAVVAAGREPFKPGNYD IQKYLLPARLPGISQRVYPKGNAKSESRKSSNWKVFIITSDLPDAGTSSQIYIILYGQHRSSAPIYLYGTDGARFQVGHE DIFTITVGDIGALFKIRIGHTNSGSSPSWHCKEIQLHNMNSGKQFYVPVQRWLARDQEDGEICREFPLLSKGQPVLPVTI YEVNVATGELWNAGTVANVYISIHGEKGDTGSRQLFRSKSSFNFLRGQTDTFFLEAVHLGDLCKIVIGHDGLGPGNGWFL DDVVIKDPTTNYEYAFFCHRWLDQGEDDCKIVRELYARDNSIFSASRYHVYTFPGKLFYDDWRKHDTSEINCPLFIFSGQ KLELKRKETWTAESWKFTKGNTLQFYNKLTGGFVRLHPDGTVDAIGEKTDKYGVFDVIFNKRNICIFQSHEMRHLSLALD NGIVTGMVSGEATTELRVLYQPNRCALLESALVPGHTVVFDRHGKIADASSAGYANLSKEFVIFVKGVFLNSAVVLLATS LCQALCLQPDGSCTGVGSQSEKSYWKVHKISSGICMFESVKNAQMYLRIKDGRCDGTGTGDVDCHFKIKKNLKNASISLE STKSPGLFVGLQSDGQAKPMIYTKDENVCFYPQVIQFGRENPMGMSATPSQEEEKIHESKKQKKIPPESEARSPLPSSTA KEIRHFQSSETLLSEDEWKVLVLTGNTGTQANVTLWVYGDKGVTGPISLRKDSSEQLFLPGHEDEFQVEIRNTGNIYKIR IGHDGTSEQPEWNLQRVTMQHMKSKKILDFAANVWLSRIQADGDVVCELPVVKGGQAIFPS*

Gene Symbol:	RP1
Accession:	XM_017014158
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	RCV000175823	CLINVAR
dbSNP (RS)	rs794727282	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	RP1	CLINVAR
OMIM	603937	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:10050771 - Homo sapiens