rs376024280 Rat Genome Database

rs376024280 Rat Genome Database

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Variant: rs376024280 - Homo sapiens

RGD ID:

151749467

RS ID:

rs376024280

ClinVar ID:

CV1357127

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	6	73,000,527
GRCh38	6	72,290,824

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001350420.2:c.1774C>T NM_001350434.2:c.1776-1110C>T NM_001350415.2:c.1782-1110C>T NM_001350445.2:c.1782-1110C>T More...	11/15/2022	intron variant	uncertain significance	none provided

Gene Symbol:	RIMS1
Accession:	XM_047418416
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	1088

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTPRNAENQPHQP SPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFCARCGGRVSLRSNNEDKVVMW VCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTAAASSQDAAPPSAPPD RSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQPVEGAVEERERKERRESRRLE KGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPNLARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEA GAALPEGKAGKRAPAAARASPPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSS AVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKG DLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKK GSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKME RPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKT VKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQP SPFMPRRHIHGESSSKKLQIGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPT RRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRHSRKSERSSIQKQTRKGTASDAERV LPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPPADTSFSSR RGRQLPQVPVRSGSIEQEQEKYNSSTKGIRTQVQRDYDICPNCLSVVDYKPRSFYFRPFPLHVGVSYFTSLVVEERTRQM KMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGR ISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQT ESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLA TPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQ GKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	NM_001350438
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	615

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVAGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRT TMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVE IIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQA TDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFL GEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPGYR SSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRD VDSQYLSEQDSELLMLPRAKRGRSAECLHTTSELQPFLDRARSASTNCLRPDTSLHSPERERHSRKSERSSIQKQTRKGT ASDAERVLPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPPA DTSFSSRRGRQLPQVPVRSGSIEQESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLG ADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKK KTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTP LTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	NM_001350456
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	615

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVAGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRT TMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVE IIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQA TDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFL GEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPGYR SSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRD VDSQYLSEQDSELLMLPRAKRGRSAECLHTTSELQPFLDRARSASTNCLRPDTSLHSPERERHSRKSERSSIQKQTRKGT ASDAERVLPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPPA DTSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKS SDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTA VGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSS EGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKV YLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLF PPSSLVDPTLTPLTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	NM_001350446
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	616

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVAGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRT TMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVE IIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQA TDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFL GEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGY RSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTR DVDSQYLSEQDSELLMLPRAKRGRSAECLHTTSELQPFLDRARSASTNCLRPDTSLHSPERERHSRKSERSSIQKQTRKG TASDAERVLPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPP ADTSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAK SSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDT AVGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYS SEGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVK VYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKL FPPSSLVDPTLTPLTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	XM_024446369
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	1141

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTPRNAENQPHQP SPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFCARCGGRVSLRSNNEDKVVMW VCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTAAASSQDAAPPSAPPD RSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQPVEGAVEERERKERRESRRLE KGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPNLARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEA GAALPEGKAGKRAPAAARASPPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSS AVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKG DLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKK GSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKME RPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKT VKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQP SPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGND QGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTSEL QPFLDRARSASTNCLRPDTSLHSPERERHSRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPRATDQPVIRGKHPA RSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVPVRSGSIEQEQEKYNSSTK GIRTQVQRDYDICPNCLSVVDYKPRSFYFRPFPLHVGVSYFTSLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKY NIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVS GEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMV RQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARS LTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQIL LEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	NM_001350420
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	592

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVAGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRT TMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVE IIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQA TDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFL GEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGY RSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTR DVDSQYLSEQDSELLMLPRAKRGRSAECLHTTSELQPFLDRARSASTNCLRPDTSLHSPERERVLPTCLSRRGHAAPRAT DQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVPVRSGSIE QASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSST SFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIV SRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDG LGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDP LYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSSLE SSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	XM_017010519
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	1112

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTPRNAENQPHQP SPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFCARCGGRVSLRSNNEDKVVMW VCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTAAASSQDAAPPSAPPD RSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQPVEGAVEERERKERRESRRLE KGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPNLARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEA GAALPEGKAGKRAPAAARASPPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSS AVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKG DLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKK GSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKME RPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKT VKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQP SPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGN DQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRH SRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSP LLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKY NIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVS GEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMV RQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARS LTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQIL LEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	NM_014989
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	1234

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTPRNAENQPHQP SPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFCARCGGRVSLRSNNEDKVVMW VCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTAAASSQDAAPPSAPPD RSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQPVEGAVEERERKERRESRRLE KGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPNLARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEA GAALPEGKAGKRAPAAARASPPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSS AVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKG DLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKK GSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKME RPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKT VKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQP SPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGN DQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRH LVRHYKTLPPKMPLLQSSSHWNIYSSILPAHTKTKSVTRQDISLHHECFNSTVLRFTDEILVSELQPFLDRARSASTNCL RPDTSLHSPERERGRWSPSLDRRRPPSPRIQIQHASPENDRHSRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPR ATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVPVRSGS IEQASLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLS STSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVA IVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFL DGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTL DPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSS LESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	NM_001350442
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	616

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVAGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRT TMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVE IIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQA TDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFL GEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGY RSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTR DVDSQYLSEQDSELLMLPRAKRGRSAECLHTTSELQPFLDRARSASTNCLRPDTSLHSPERERHSRKSERSSIQKQTRKG TASDAERVLPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPP ADTSFSSRRGRQLPQVPVRSGSIEQESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRL GADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAK KKTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLT PLTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	NM_001350431
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	586

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCAPGIHVSSEGWEEVRSVDSEEGTIEARRAVAGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRT TMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVE IIVSRPIGDIPRIPESSHPPLESSSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQA TDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFL GEILIELETALLDDEPHWYKLQTHDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGY RSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTR DVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRHSRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPRATDQPVIR GKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVPVRSGSIEQASLVV EERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQ SERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIVSRRSRS TSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDGLGPAQL VGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSL VFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSSLESSTGPP CIRS*

Gene Symbol:	RIMS1
Accession:	XM_017010516
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	1112

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSSAVGPRGPRPPTVPPPMQELPDLSHLTEEERNIIMAVMDRQKEEEEKEEAMLKCVVRDMAKPAACKTPRNAENQPHQP SPRLHQQFESYKEQVRKIGEEARRYQGEHKDDAPTCGICHKTKFADGCGHLCSYCRTKFCARCGGRVSLRSNNEDKVVMW VCNLCRKQQEILTKSGAWFFGSGPQQTSQDGTLSDTATGAGSEVPREKKARLQERSRSQTPLSTAAASSQDAAPPSAPPD RSKGAEPSQQALGPEQKQASSRSRSEPPRERKKTPGLSEQNGKGALKSERKRVPKTSAQPVEGAVEERERKERRESRRLE KGRSQDYPDTPEKRDEGKAADEEKQRKEEDYQTRYRSDPNLARYPVKPPPEEQQMRMHARVSRARHERRHSDVALPRTEA GAALPEGKAGKRAPAAARASPPDSPRAYSAERTAETRAPGAKQLTNHSPPAPRHGPVPAEAPELKAQEPLRKQSRLDPSS AVLMRKAKREKVETMLRNDSLSSDQSESVRPSPPKPHRSKRGGKKRQMSVSSSEEEGVSTPEYTSCEDVELESESVSEKG DLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLGRLGAFITKVKK GSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLESSSSSFESQKME RPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPDRSDKSKRRTKT VKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFLGEILIELETALLDDEPHWYKLQTHDESSLPLPQP SPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHHRSRSVSPHRGN DQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRGRSAECLHTTRH SRKSERSSIQKQTRKGTASDAERVLPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRTLCSMHHLVSGGSAPPSP LLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVPVRSGSIEQEQEKYNSSTKGIRTQVQRDYDICPNCLSVVDYKPRSFYF RPFPLHVGVSYFTSLVVEERTRQMKMKVHRFKQTTGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKSSDSDVSDVSAIS RTSSASRLSSTSFMSEQSERPRGRISSFTPKMQGRRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRR SSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKSTIQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLG ADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIGMEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKK KTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWGDYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTP LTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	NM_001350462
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	569

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEYSVSMWKPGDLDYYWLDPATWHSRETSPISSHPVTWQPSKEGDRLIGRVILNKRTTMPKDSGALLGLKVVGGKMTDLG RLGAFITKVKKGSLADVVGHLRAGDEVLEWNGKPLPGATNEEVYNIILESKSEPQVEIIVSRPIGDIPRIPESSHPPLES SSSSFESQKMERPSISVISPTSPGALKDAPQVLPGQLSVKLWYDKVGHQLIVNVLQATDLPARVDGRPRNPYVKMYFLPD RSDKSKRRTKTVKKILEPKWNQTFVYSHVHRRDFRERMLEITVWDQPRVQEEESEFLGEILIELETALLDDEPHWYKLQT HDESSLPLPQPSPFMPRRHIHGESSSKKLQRSQRISDSDISDYEVDDGIGVVPPVGYRSSARESKSTTLTVPEQQRTTHH RSRSVSPHRGNDQGKPRSRLPNVPLQRSLDEIHPTRRSRSPTRHHDASRSPVDHRTRDVDSQYLSEQDSELLMLPRAKRG RSAECLHTTSELQPFLDRARSASTNCLRPDTSLHSPERERVLPTCLSRRGHAAPRATDQPVIRGKHPARSRSSEHSSIRT LCSMHHLVSGGSAPPSPLLTRMHRQRSPTQSPPADTSFSSRRGRQLPQVPVRSGSIEQASLVVEERTRQMKMKVHRFKQT TGSGSSQELDREQYSKYNIHKDQYRSCDNVSAKSSDSDVSDVSAISRTSSASRLSSTSFMSEQSERPRGRISSFTPKMQG RRMGTSGRSIMKSTSVSGEMYTLEHNDGSQSDTAVGTVGAGGKKRRSSLSAKVVAIVSRRSRSTSQLSQTESGHKKLKST IQRSTETGMAAEMRKMVRQPSRESTDGSINSYSSEGNLIFPGVRLGADSQFSDFLDGLGPAQLVGRQTLATPAMGDIQIG MEDKKGQLEVEVIRARSLTQKPGSKSTPAPYVKVYLLENGACIAKKKTRIARKTLDPLYQQSLVFDESPQGKVLQVIVWG DYGRMDHKCFMGVAQILLEELDLSSMVIGWYKLFPPSSLVDPTLTPLTRRASQSSLESSTGPPCIRS*

Gene Symbol:	RIMS1
Accession:	XM_017010517
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418419
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350417
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350455
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350443
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350472
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418420
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_017010537
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350432
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001168409
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_017010525
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350434
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350422
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350466
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418425
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_017010520
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_017010546
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_017010544
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418421
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001168411
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350448
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350411
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350426
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418426
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350414
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350459
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350469
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350413
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350441
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350467
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_017010521
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350457
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350460
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350470
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350416
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350454
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350464
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350436
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350419
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350461
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001168407
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_011535604
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350415
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350447
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418423
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_024446372
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350427
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350421
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350429
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350463
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350437
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350440
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350473
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350424
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350435
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350468
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350471
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350449
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350423
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_017010518
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350412
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350439
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001168408
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350445
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350418
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418422
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001168410
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350430
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350450
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350452
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350474
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418417
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350458
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350433
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350444
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_017010522
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350428
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350425
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	NM_001350465
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418418
Location:	INTRON

Gene Symbol:	RIMS1
Accession:	XM_047418424
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001872106	CLINVAR
dbSNP (RS)	rs376024280	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	RIMS1	CLINVAR
OMIM	606629	CLINVAR