RGD:40906300 Rat Genome Database

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Variant: RGD:40906300 -  Homo sapiens

RGD ID: 40906300
RS ID: rs776346762
ClinVar ID: CV977806
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CP  HPS3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 148,881,671
GRCh38 3 149,163,884
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001295187.1:p.His677Tyr
NP_115759.2:p.His842Tyr
NM_001308258.2:c.2029C>T
NM_032383.5:c.2524C>T
More... 		04/21/2022 missense variant uncertain significance Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CP
Accession:XM_011512435
Location:3UTRS;INTRON

Gene Symbol:CP
Accession:XM_006713499
Location:3UTRS;INTRON

Gene Symbol:HPS3
Accession:NM_001308258
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 677
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGISNEISQ
LESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPIYQTGS
LTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSAAAARE
EDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPPVAEAG
WNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGDCYSRL
DSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPKQVPHI
LCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQRKGQIV
PTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFFKLTSQ
YIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVYVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFLEPLSE
DTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSSLKETL
SIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT*

Gene Symbol:HPS3
Accession:XM_047449064
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 842
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGDYLVAIE
EKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFS
LKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGIS
NEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPI
YQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSA
AAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPP
VAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGD
CYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPK
QVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQR
KGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFF
KLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVYVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFL
EPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRIDSVVEKTVA*

Gene Symbol:HPS3
Accession:NM_032383
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 842
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVQLYNLHPFGSQQVVPCKLEPDRFCGGGRDALFVAAGCKVEAFAVAGQELCQPRCAFSTLGRVLRLAYSEAGDYLVAIE
EKNKATFLRAYVNWRNKRTENSRVCIRMIGHNVEGPFSKAFRDQMYIIEMPLSEAPLCISCCPVKGDLLVGCTNKLVLFS
LKYQIINEEFSLLDFERSLIIHIDNITPVEVSFCVGYVAVMSDLEVLIVKLESGPKNGERVHHHPHKTNNRIRRTEEGIS
NEISQLESDDFVICQKPLELLGEKSEQSGLSVTLESTGLADEKRKYSHFQHLLYRRFAPDISSYVLSDDIKLHSLQLLPI
YQTGSLTSDGKNLSQEKELLSLFCFFSLPHVGYLYMVVKSVELMSVYQYPEKSQQAVLTPQFLHVITSNNLQCFTVRCSA
AAAREEDPYMDTTLKACPPVSMDVCALRIQLFIGLKAICHFKNHIILLTKAEPEAIPERRQSPKRLLSRKDTSVKIKIPP
VAEAGWNLYIVNTISPVQLYKEMVDYSNTYKTVKTQSCIHLLSEAHLLVRAALMDASQLEPGEKAELLEAFKESCGHLGD
CYSRLDSQHSHLTLPYYKMSGLSMAEVLARTDWTVEDGLQKYERGLIFYINHSLYENLDEELNEELAAKVVQMFYVAEPK
QVPHILCSPSMKNINPLTAMSYLRKLDTSGFSSILVTLTKAAVALKMGDLDMHRNEMKSHSEMKLVCGFILEPRLLIQQR
KGQIVPTELALHLKETQPGLLVASVLGLQKNNKIGIEEADSFFKVLCAKDEDTIPQLLVDFWEAQLVACLPDVVLQELFF
KLTSQYIWRLSKRQPPDTTPLRTSEDLINACSHYGLIYPWVYVVISSDSLADKNYTEDLSKLQSLICGPSFDIASIIPFL
EPLSEDTIAGLSVHVLCRTRLKEYEQCIDILLERCPEAVIPYANHELKEENRTLWWKKLLPELCQRIKCGGEKYQLYLSS
LKETLSIVAVELELKDFMNVLPEDGTATFFLPYLLYCSRKKPLT*

Gene Symbol:HPS3
Accession:XR_001740328
Location:EXON;NON-CODING

Gene Symbol:CP
Accession:XM_017005735
Location:INTRON

Gene Symbol:CP
Accession:XM_017005734
Location:INTRON

Gene Symbol:HPS3
Accession:XM_005247834
Location:INTRON

Gene Symbol:CP
Accession:NM_000096
Location:INTRON

Gene Symbol:CP
Accession:XM_006713500
Location:INTRON

Gene Symbol:CP
Accession:XM_006713501
Location:INTRON

Gene Symbol:CP
Accession:NR_046371
Location:INTRON;NON-CODING

Gene Symbol:CP
Accession:XR_427361
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001279658 CLINVAR
  RCV002541715 CLINVAR
dbSNP (RS) rs776346762 CLINVAR
MedGen C0079504 CLINVAR
  CN517202 CLINVAR
NCBI Gene CP CLINVAR
  HPS3 CLINVAR
OMIM 117700 CLINVAR
  606118 CLINVAR
SNOMED CT 9311003 CLINVAR