RGD:156361841 Rat Genome Database

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Variant: RGD:156361841 -  Homo sapiens

RGD ID: 156361841
ClinVar ID: CV1900603
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBXAS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 139,715,530
GRCh38 7 140,015,730
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_579t1:c.1237C>T
LRG_579t2:c.1237C>T
LRG_579t3:c.1033C>T
LRG_579t4:c.1375C>T
More... 		06/24/2022 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TBXAS1
Accession:XM_011516544
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 413
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCG
YYLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQAC
DLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPL
ARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQP
SPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAE
TLRMYPPAFRFTWEAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERSKLNPEI*

Gene Symbol:TBXAS1
Accession:NM_001366537
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLHISILKTGEVRPQTSQAFSFHWKLDIFPPGFLGKPNGAQKAVWTSVWASGLEFKSVADSVLFLRDKRWEEVRGALMS
AFSPEKLNEMVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCI
PRPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVR
DVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAP
EFCSLEEGLPYLDMVIAETLRMYPPAFRFTWEAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEAR
QQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001314028
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLHISILKTGEVRPQTSQAFSFHWKLDIFPPGFLGKPNGAQKAVWTSVWVRRKLNVSIMYYLGRRMFIVISEPDMIKQV
LVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACDLLLAHLKRYAESGDAFDIQ
RCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLI
RNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFL
IAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTWEAAQDCE
VLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHK
FRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_030984
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 412
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGY
YLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACD
LLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLA
RILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPS
PMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAET
LRMYPPAFRFTWEAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERYRCS*

Gene Symbol:TBXAS1
Accession:NM_001061
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 412
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGY
YLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACD
LLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLA
RILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPS
PMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAET
LRMYPPAFRFTWEAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCL
GVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001166254
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRKLYGPLCGYYLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEK
LNEMVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILV
LLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSST
GCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLE
EGLPYLDMVIAETLRMYPPAFRFTWEAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPF
TYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001166253
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 458
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGY
YLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNELGLLIMQERI
KGHMGGQQAPQRIPPTRLSKPSGIYVNLHYATLPFCMVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVA
FGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEER
RRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFAT
YLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTWEAAQDCEVLGQRIPAGAVLEMA
VGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQL
ESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001130966
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 412
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGY
YLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKSVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACD
LLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLA
RILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPS
PMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAET
LRMYPPAFRFTWEAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCL
GVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001366538
Location:INTRON

Gene Symbol:TBXAS1
Accession:NR_159364
Location:INTRON;NON-CODING

Gene Symbol:TBXAS1
Accession:NR_159363
Location:INTRON;NON-CODING

Gene Symbol:TBXAS1
Accession:NR_159365
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:8702713   PMID:18264100   PMID:27156553   PMID:28492532   PMID:33185009  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002581779 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene TBXAS1 CLINVAR
OMIM 274180 CLINVAR