RGD:15196106 Rat Genome Database

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Variant: RGD:15196106 -  Homo sapiens

RGD ID: 15196106
RS ID: rs759809991
ClinVar ID: CV746276
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DISC1  TSNAX-DISC1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 232,172,517
GRCh38 1 232,036,771
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164540.2:c.2139G>A
NM_001012957.2:c.2439G>A
NM_018662.3:c.2505G>A
NM_001164537.2:c.2601G>A
More... 		03/13/2018 non-coding transcript variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DISC1
Accession:NM_001164537
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 867
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKVETGFHYVGQAGLELLTSSNPPASASQS
AGITAETLQQRLEDLEQEKISLHFQLPSRQPALSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSL
HVSITRRDWLLQEKQQLQKEIEALQARMFVLEAKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLA
SAGQIPFHAEPPETIRSLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLT
EEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLG
KVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQK
EESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAG
VHEAQA*

Gene Symbol:DISC1
Accession:NM_018662
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 835
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA
LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE
AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI
TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG
SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDER
QMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHCAGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAI
HSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAASCMTAGVHEAQA*

Gene Symbol:DISC1
Accession:NM_001012957
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 813
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA
LSSFLGHLAAQVQAALRRGATQQASGDDTHTPLRMEPRLLEPTAQDSLHVSITRRDWLLQEKQQLQKEIEALQARMFVLE
AKDQQLRREIEEQEQQLQWQGCDLTPLVGQLSLGQLQEVSKALQDTLASAGQIPFHAEPPETIRSLQERIKSLNLSLKEI
TTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFWTAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLG
SVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSCKCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDER
QMDDLEGAAPPIPPRLHSEDKRKTPLKESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETL
QAMILQLQPAKEAGEREAAASCMTAGVHEAQA*

Gene Symbol:DISC1
Accession:NM_001164540
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 713
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGGPQGAPAAAGGGGVSHRAGSRDCLPPAACFRRRRLARRPGYMRSSTGPGIGFLSPAVGTLFRFPGGVSGEESHHSE
SRARQCGLDSRGLLVRSPVSKSAAAPTVTSVRGTSAHFGIQLRGGTRLPDRLSWPCGPGSAGWQQEFAAMDSSETLDASW
EAACSDGARRVRAAGSLPSAELSSNSCSPGCGPEVPPTPPGSHSAFTSSFSFIRLSLGSAGERGEAEGCPPSREAESHCQ
SPQEMGAKAASLDGPHEDPRCLSRPFSLLATRVSADLAQAARNSSRPERDMHSLPDMDPGSSSSLDPSLAGCGGDGSSGS
GDAHSWDTLLRKWEPVLRDCLLRNRRQMEVISLRLKLQKLQEDAVENDDYDKAETLQQRLEDLEQEKISLHFQLPSRQPA
LSSFLGHLAAQVQAALRRGATQHLQERIKSLNLSLKEITTKVCMSEKFCSTLRKKVNDIETQLPALLEAKMHAISGNHFW
TAKDLTEEIRSLTSEREGLEGLLSKLLVLSSRNVKKLGSVKEDYNRLRREVEHQETAYETSVKENTMKYMETLKNKLCSC
KCPLLGKVWEADLEACRLLIQSLQLQEARGSLSVEDERQMDDLEGAAPPIPPRLHSEDKRKTPLKVLEEWKTHLIPSLHC
AGGEQKEESYILSAELGEKCEDIGKKLLYLEDQLHTAIHSHDEDLIQSLRRELQMVKETLQAMILQLQPAKEAGEREAAA
SCMTAGVHEAQA*

Gene Symbol:TSNAX-DISC1
Accession:NR_028393
Location:EXON;NON-CODING

Gene Symbol:DISC1
Accession:NM_001164538
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164541
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164547
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164542
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164546
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001012959
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164539
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164544
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164545
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164548
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164556
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164549
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164551
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164555
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164552
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164550
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164553
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001012958
Location:INTRON

Gene Symbol:DISC1
Accession:NM_001164554
Location:INTRON

Gene Symbol:TSNAX-DISC1
Accession:NR_028394
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028395
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028397
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028396
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028398
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028400
Location:INTRON;NON-CODING

Gene Symbol:TSNAX-DISC1
Accession:NR_028399
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000911604 CLINVAR
dbSNP (RS) rs759809991 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DISC1 CLINVAR
  TSNAX-DISC1 CLINVAR
OMIM 605210 CLINVAR