RGD:151728944 Rat Genome Database

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Variant: RGD:151728944 -  Homo sapiens

RGD ID: 151728944
RS ID: rs773309398
ClinVar ID: CV1483047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TBXAS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 139,636,012
GRCh38 7 139,936,213
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001166254.4:c.155C>T
NM_001366537.3:c.173C>T
NM_001314028.4:c.299C>T
NM_001061.7:c.356C>T
More... 		12/02/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TBXAS1
Accession:NM_001366537
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLHISILKTGEVRPQTSQAFSFHWKLDIFPPGFLGKPNGAQKAVWTSVWASGLEFKLVADSVLFLRDKRWEEVRGALMS
AFSPEKLNEMVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCI
PRPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVR
DVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAP
EFCSLEEGLPYLDMVIAETLRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEAR
QQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_030984
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGY
YLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKLVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACD
LLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLA
RILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPS
PMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAET
LRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERYRCS*

Gene Symbol:TBXAS1
Accession:NM_001314028
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVLHISILKTGEVRPQTSQAFSFHWKLDIFPPGFLGKPNGAQKAVWTSVWVRRKLNVSIMYYLGRRMFIVISEPDMIKQV
LVENFSNFTNRMASGLEFKLVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACDLLLAHLKRYAESGDAFDIQ
RCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLI
RNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFL
IAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTREAAQDCE
VLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHK
FRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001166254
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MELRKLYGPLCGYYLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKLVADSVLFLRDKRWEEVRGALMSAFSPEK
LNEMVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILV
LLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSST
GCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLE
EGLPYLDMVIAETLRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPF
TYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:XM_011516544
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 120
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCG
YYLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKLVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQAC
DLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPL
ARILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQP
SPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAE
TLRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERSKLNPEI*

Gene Symbol:TBXAS1
Accession:NM_001130966
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGY
YLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKLVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACD
LLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLA
RILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPS
PMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAET
LRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCL
GVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001166253
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGY
YLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKLVADSVLFLRDKRWEEVRGALMSAFSPEKLNELGLLIMQERI
KGHMGGQQAPQRIPPTRLSKPSGIYVNLHYATLPFCMVPLISQACDLLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVA
FGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLARILPNKNRDELNGFFNKLIRNVIALRDQQAAEER
RRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPSPMARPLTVDEIVGQAFIFLIAGYEIITNTLSFAT
YLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAETLRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMA
VGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCLGVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQL
ESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001061
Location:EXON
Amino Acid Prediction: S to L (nonsynonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEALGFLKLEVNGPMVTVALSVALLALLKWYSTSAFSRLEKLGLRHPKPSPFIGNLTFFRQGFWESQMELRKLYGPLCGY
YLGRRMFIVISEPDMIKQVLVENFSNFTNRMASGLEFKLVADSVLFLRDKRWEEVRGALMSAFSPEKLNEMVPLISQACD
LLLAHLKRYAESGDAFDIQRCYCNYTTDVVASVAFGTPVDSWQAPEDPFVKHCKRFFEFCIPRPILVLLLSFPSIMVPLA
RILPNKNRDELNGFFNKLIRNVIALRDQQAAEERRRDFLQMVLDARHSASPMGVQDFDIVRDVFSSTGCKPNPSRQHQPS
PMARPLTVDEIVGQAFIFLIAGYEIITNTLSFATYLLATNPDCQEKLLREVDVFKEKHMAPEFCSLEEGLPYLDMVIAET
LRMYPPAFRFTREAAQDCEVLGQRIPAGAVLEMAVGALHHDPEHWPSPETFNPERFTAEARQQHRPFTYLPFGAGPRSCL
GVRLGLLEVKLTLLHVLHKFRFQACPETQVPLQLESKSALGPKNGVYIKIVSR*

Gene Symbol:TBXAS1
Accession:NM_001366538
Location:INTRON

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001892042 CLINVAR
dbSNP (RS) rs773309398 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TBXAS1 CLINVAR
OMIM 274180 CLINVAR