RGD:401903668 Rat Genome Database

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Variant: RGD:401903668 -  Homo sapiens

RGD ID: 401903668
ClinVar ID: CV2798691
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AC104123.1  CAST  PCSK1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 95,764,966
GRCh38 5 96,429,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001423253.1:c.-103+49610G>C
NM_001423250.1:c.-175+49610G>C
NM_001423251.1:c.-175+49610G>C
NM_000439.5:c.236C>G
More... 		08/14/2023 intron variant uncertain significance

Variant Details
Variant Transcripts
Gene Symbol:CAST
Accession:NM_001423254
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423259
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423253
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423255
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423250
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423251
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423256
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423258
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423252
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423257
Location:5UTRS;INTRON

Gene Symbol:CAST
Accession:NM_001423260
Location:5UTRS;INTRON

Gene Symbol:PCSK1
Accession:NM_000439
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 79
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLGQIGSLENHYLFKHKNHPRRSR
RSAFHITKRLSDDDRVIWAEQQYEKERSKRSALRDSALNLFNDPMWNQQWYLQDTRMTAALPKLDLHVIPVWQKGITGKG
VVITVLDDGLEWNHTDIYANYDPEASYDFNDNDHDPFPRYDPTNENKHGTRCAGEIAMQANNHKCGVGVAYNSKVGGIRM
LDGIVTDAIEASSIGFNPGHVDIYSASWGPNDDGKTVEGPGRLAQKAFEYGVKQGRQGKGSIFVWASGNGGRQGDNCDCD
GYTDSIYTISISSASQQGLSPWYAEKCSSTLATSYSSGDYTDQRITSADLHNDCTETHTGTSASAPLAAGIFALALEANP
NLTWRDMQHLVVWTSEYDPLANNPGWKKNGAGLMVNSRFGFGLLNAKALVDLADPRTWRSVPEKKECVVKDNDFEPRALK
ANGEVIIEIPTRACEGQENAIKSLEHVQFEATIEYSRRGDLHVTLTSAAGTSTVLLAERERDTSPNGFKNWDFMSVHTWG
ENPIGTWTLRITDMSGRIQNEGRIVNWKLILHGTSSQPEHMKQPRVYTSYNTVQNDRRGVEKMVDPGEEQPTQENPKENT
LVSKSPSSSSVGGRRDELEEGAPSQAMLRLLQSAFSKNSPPKQSPKKSPSAKLNIPYENFYEALEKLNKPSQLKDSEDSL
YNDYVDVFYNTKPYKHRDDRLLQALVDILNEEN*

Gene Symbol:PCSK1
Accession:NM_001177875
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGKGSISFLFFSQIGSLENHYLFKHKNHPRRSRRSAFHITKRLSDDDRVIWAEQQYEKERSKRSALRDSALNLFNDPMWN
QQWYLQDTRMTAALPKLDLHVIPVWQKGITGKGVVITVLDDGLEWNHTDIYANYDPEASYDFNDNDHDPFPRYDPTNENK
HGTRCAGEIAMQANNHKCGVGVAYNSKVGGIRMLDGIVTDAIEASSIGFNPGHVDIYSASWGPNDDGKTVEGPGRLAQKA
FEYGVKQGRQGKGSIFVWASGNGGRQGDNCDCDGYTDSIYTISISSASQQGLSPWYAEKCSSTLATSYSSGDYTDQRITS
ADLHNDCTETHTGTSASAPLAAGIFALALEANPNLTWRDMQHLVVWTSEYDPLANNPGWKKNGAGLMVNSRFGFGLLNAK
ALVDLADPRTWRSVPEKKECVVKDNDFEPRALKANGEVIIEIPTRACEGQENAIKSLEHVQFEATIEYSRRGDLHVTLTS
AAGTSTVLLAERERDTSPNGFKNWDFMSVHTWGENPIGTWTLRITDMSGRIQNEGRIVNWKLILHGTSSQPEHMKQPRVY
TSYNTVQNDRRGVEKMVDPGEEQPTQENPKENTLVSKSPSSSSVGGRRDELEEGAPSQAMLRLLQSAFSKNSPPKQSPKK
SPSAKLNIPYENFYEALEKLNKPSQLKDSEDSLYNDYVDVFYNTKPYKHRDDRLLQALVDILNEEN*

Gene Symbol:CAST
Accession:NM_001190442
Location:INTRON

Gene Symbol:CAST
Accession:NM_001042440
Location:INTRON

Gene Symbol:CAST
Accession:NM_173060
Location:INTRON

Gene Symbol:CAST
Accession:NM_001042441
Location:INTRON

Gene Symbol:CAST
Accession:NM_001042442
Location:INTRON

Gene Symbol:CAST
Accession:NM_001750
Location:INTRON

Gene Symbol:CAST
Accession:NM_001042443
Location:INTRON

Gene Symbol:CAST
Accession:NM_001042445
Location:INTRON

Gene Symbol:CAST
Accession:NM_001042444
Location:INTRON

Gene Symbol:CAST
Accession:NM_001042446
Location:INTRON

Gene Symbol:CAST
Accession:NM_001284213
Location:INTRON

Gene Symbol:CAST
Accession:NM_001284212
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330626
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330627
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330629
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330628
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330631
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330633
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330634
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330632
Location:INTRON

Gene Symbol:CAST
Accession:NM_001330630
Location:INTRON

Gene Symbol:CAST
Accession:NM_001375317
Location:INTRON

Gene Symbol:CAST
Accession:NR_104285
Location:INTRON;NON-CODING

Gene Symbol:AC104123.1
Accession:NR_130776
Location:INTRON;NON-CODING

Gene Symbol:CAST
Accession:NR_186779
Location:INTRON;NON-CODING

Gene Symbol:CAST
Accession:NR_186780
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003414556 CLINVAR
NCBI Gene AC104123.1 CLINVAR
  CAST CLINVAR
  PCSK1 CLINVAR
OMIM 114090 CLINVAR
  162150 CLINVAR