RGD:151765990 Rat Genome Database

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Variant: RGD:151765990 -  Homo sapiens

RGD ID: 151765990
RS ID: rs2085515521
ClinVar ID: CV1495925
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HPS4  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 26,849,306
GRCh38 22 26,453,340
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_590t2:c.2005G>T
NM_001349902.1:c.1778G>T
NM_001349903.2:c.1778G>T
NM_001349904.2:c.1955+4519G>T
More... 		07/26/2021 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:HPS4
Accession:XM_017029046
Location:3UTRS;EXON

Gene Symbol:HPS4
Accession:XM_047441568
Location:3UTRS;EXON

Gene Symbol:HPS4
Accession:XM_047441566
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:3UTRS;EXON

Gene Symbol:HPS4
Accession:XM_047441567
Location:3UTRS;EXON

Gene Symbol:HPS4
Accession:XM_047441565
Location:3UTRS;EXON

Gene Symbol:HPS4
Accession:XM_047441569
Location:3UTRS;EXON

Gene Symbol:HPS4
Accession:NM_001410832
Location:3UTRS;EXON

Gene Symbol:HPS4
Accession:NM_022081
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 674
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF
AQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:NM_152841
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 669
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLCSLARWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKLKFAIK
VDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSLWNLDQ
TKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALPPNVQI
IPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKEN
GCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKAS
LSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPT
GEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDS
AAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPA
LYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:XM_011530490
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 700
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKSHGTWSDIKPPVSPWGLCFRRKVEDRVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVL
LHRTAPQEQRLPTGEDAPQEHGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALK
ENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHI
PEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAP
IPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAES
CMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLL
MANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSG
KAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:XM_011530486
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 718
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKSHGTWSDIKPPVSPWGLCFRRKVEDRVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVL
LHRTAPQEQRLPTGEDAPQEHGKWMLWSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGL
QDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSL
GKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQ
HGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQ
GAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAA
STSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPA
ARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:XM_011530495
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 503
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPRRNMVSSEAHGCLLRTAVFYATYPCTSYAKETKPSACLFPLLIIGKWMLWSFKNRVTHQNPNGAALPPNVQIIPVFVT
KEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGH
DLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSS
LEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLD
EDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEV
YHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTV
RNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:XM_011530496
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 454
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLWSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGH
VESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEV
EMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADP
LPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVR
MNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQ
VATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKL
LKHGVNLL*

Gene Symbol:HPS4
Accession:XM_017029053
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 533
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPCKAKNIYCLVFCTESLLITGLRDSLRERMPRRNMVSSEAHGCLLRTAVFYATYPCTSYAKETKPSACLFPLLIIGKWM
LWSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHV
ESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVE
MASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPL
PRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRM
NLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQV
ATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLL
KHGVNLL*

Gene Symbol:HPS4
Accession:NM_001349902
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 593
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAVTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT
SKGSSAFYN*

Gene Symbol:HPS4
Accession:NM_001349896
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 674
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF
AQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:NM_001349901
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 692
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML
WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE
SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM
ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP
RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN
LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA
TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLK
HGVNLL*

Gene Symbol:HPS4
Accession:NM_001349899
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 674
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF
AQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:NM_001349903
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 593
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAVTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT
SKGSSAFYN*

Gene Symbol:HPS4
Accession:NM_001349900
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 692
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML
WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE
SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM
ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP
RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN
LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA
TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLK
HGVNLL*

Gene Symbol:HPS4
Accession:NM_001349898
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 674
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF
AQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:XM_047441576
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 611
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML
WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE
SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM
ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP
RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN
LYTHCVKGLVLSLLAEEPLLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAVTCSTELRLPKPSGWRLQPLRQSKAEAAEA
RGELALNCTQEVTGKEKTSKGSSAFYN*

Gene Symbol:HPS4
Accession:XM_047441583
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 593
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAVTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT
SKGSSAFYN*

Gene Symbol:HPS4
Accession:XM_047441564
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 674
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEF
AQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:XM_047441563
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 692
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML
WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE
SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM
ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP
RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN
LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA
TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLK
HGVNLL*

Gene Symbol:HPS4
Accession:XM_047441582
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 593
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAVTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT
SKGSSAFYN*

Gene Symbol:HPS4
Accession:XM_047441577
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 611
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML
WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE
SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM
ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP
RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN
LYTHCVKGLVLSLLAEEPLLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAVTCSTELRLPKPSGWRLQPLRQSKAEAAEA
RGELALNCTQEVTGKEKTSKGSSAFYN*

Gene Symbol:HPS4
Accession:XM_047441561
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 692
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML
WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE
SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM
ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP
RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN
LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA
TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLK
HGVNLL*

Gene Symbol:HPS4
Accession:XM_047441575
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 611
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML
WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE
SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM
ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP
RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN
LYTHCVKGLVLSLLAEEPLLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAVTCSTELRLPKPSGWRLQPLRQSKAEAAEA
RGELALNCTQEVTGKEKTSKGSSAFYN*

Gene Symbol:HPS4
Accession:XM_047441581
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 593
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGAALP
PNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPD
GRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAP
YCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRG
NKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEP
LLGDSAAIEEVKCLHGCVRLLQPHPGDIFPAAVTCSTELRLPKPSGWRLQPLRQSKAEAAEARGELALNCTQEVTGKEKT
SKGSSAFYN*

Gene Symbol:HPS4
Accession:XM_047441562
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 692
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATSTSTEAKSASWWNYFFLYDGSKVKEEGDPTRAGICYFYPSQTLLDQQELLCGQIAGVVRCVSDISDSPPTLVRLRKL
KFAIKVDGDYLWVLGCAVELPDVSCKRFLDQLVGFFNFYNGPVSLAYENCSQEELSTEWDTFIEQILKNTSDLHKIFNSL
WNLDQTKVEPLLLLKAARILQTCQRSPHILAGCILYKGLIVSTQLPPSLTAKVLLHRTAPQEQRLPTGEDAPQEHGKWML
WSFKNRVTHQNPNGAALPPNVQIIPVFVTKEEAISLHEFPVEQMTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVE
SMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSARGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEM
ASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSLRPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLP
RRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPGLECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMN
LYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVHLKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVA
TPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPIQETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLK
HGVNLL*

Gene Symbol:HPS4
Accession:XM_047441584
Location:EXON
Amino Acid Prediction: A to S (nonsynonymous)
Amino Acid Position: 409
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTRSLASPAGLQDGSAQHHPKGGSTSALKENATGHVESMAWTTPDPTSPDEACPDGRKENGCLSGHDLESIRPAGLHNSA
RGEVLGLSSSLGKELVFLQEELDLSEIHIPEAQEVEMASGHFAFLHVPVPDGRAPYCKASLSASSSLEPTPPEDTAISSL
RPPSAPEMLTQHGAQEQLEDHPGHSSQAPIPRADPLPRRTRRPLLLPRLDPGQRGNKLPTGEQGLDEDVDGVCESHAAPG
LECSSGSANCQGAGPSADGISSRLTPAESCMGLVRMNLYTHCVKGLVLSLLAEEPLLGDSAAIEEVYHSSLASLNGLEVH
LKETLPRDEAASTSSTYNFTHYDRIQSLLMANLPQVATPQDRRFLQAVSLMHSEFAQLPALYEMTVRNASTAVYACCNPI
QETYFQQLSPAARSSGFPNPQDGAFSLSGKAKQKLLKHGVNLL*

Gene Symbol:HPS4
Accession:NR_073135
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:NR_073136
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_001755361
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_001755364
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146312
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146314
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146313
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146316
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146315
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:NR_146311
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067985
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067983
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067986
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067987
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067984
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067989
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:XR_007067988
Location:EXON;NON-CODING

Gene Symbol:HPS4
Accession:NM_001349905
Location:INTRON

Gene Symbol:HPS4
Accession:NM_001349904
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441572
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441580
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441579
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441574
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441571
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441578
Location:INTRON

Gene Symbol:HPS4
Accession:XM_047441573
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001863609 CLINVAR
dbSNP (RS) rs2085515521 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HPS4 CLINVAR
OMIM 606682 CLINVAR