RGD:155931264 Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

Variant: RGD:155931264 -  Homo sapiens

RGD ID: 155931264
ClinVar ID: CV2297295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC31  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 74,717,162
GRCh38 2 74,490,035
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001376138.1:c.-200-209A>C
NM_001376139.1:c.-200-209A>C
NM_001376141.1:c.-200-209A>C
NM_001376144.1:c.-200-209A>C
More... 		08/03/2022 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTC31
Accession:NM_001376140
Location:5UTRS;EXON

Gene Symbol:TTC31
Accession:XM_047445420
Location:5UTRS;EXON

Gene Symbol:TTC31
Accession:NM_001376138
Location:5UTRS;INTRON

Gene Symbol:TTC31
Accession:NM_001376139
Location:5UTRS;INTRON

Gene Symbol:TTC31
Accession:NM_001376145
Location:5UTRS;INTRON

Gene Symbol:TTC31
Accession:NM_001376141
Location:5UTRS;INTRON

Gene Symbol:TTC31
Accession:NM_001376144
Location:5UTRS;INTRON

Gene Symbol:TTC31
Accession:XM_047445421
Location:5UTRS;INTRON

Gene Symbol:TTC31
Accession:NM_022492
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKLGTSFAQNGF
YHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETL
RGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHYPSCHRSH
PNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:XM_011533035
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQEKDLGRLRPQDLLDFAPYPQASPGLLAA
ALQQSQELAKLGTSFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLG
KALMGLQRFREAAAVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRST
ALRSPGLSPLLHYPSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376130
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKLGTSFAQNGF
YHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETL
RGGSQPDAARELRSCLLHLTLGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHYPSCHRSHP
NQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376136
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKLGTSFAQNGF
YHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETL
RAGSARRNLCTTSVTWGPPATSPC*

Gene Symbol:TTC31
Accession:NM_001376137
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKLGTSFAQNGF
YHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETL
RGSARRNLCTTSVTWGPPATSPC*

Gene Symbol:TTC31
Accession:NM_001376129
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKEKDLGRLRPQDLLDFAPYPQASPGLLAAAL
QQSQELAKLGTSFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKA
LMGLQRFREAAAVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTAL
RSPGLSPLLHYPSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376132
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKASPGLLAAALQQSQELAKLGTSFAQNGFYH
EAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETLRG
GSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHYPSCHRSHPN
QPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376133
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKASPGLLAAALQQSQELAKLGTSFAQNGFYH
EAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETLRG
GSQPDAARELRSCLLHLTLGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHYPSCHRSHPNQ
PLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:XM_047445422
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQEKDLGRLRPQDLLDFAPYPQASPGLLAA
ALQQSQELSWVPALLKMVSTMRPWSSSPRP*

Gene Symbol:TTC31
Accession:XM_047445423
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELSWVPALLKMVST
MRPWSSSPRP*

Gene Symbol:TTC31
Accession:XM_047445424
Location:EXON
Amino Acid Prediction: D to A (nonsynonymous)
Amino Acid Position: 47
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVAFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDSLLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKASPGLLAAALQQSQELSWVPALLKMVSTMR
PWSSSPRP*

Gene Symbol:TTC31
Accession:NR_164773
Location:EXON;NON-CODING

Gene Symbol:TTC31
Accession:NM_001376134
Location:INTRON

Gene Symbol:TTC31
Accession:NM_001376135
Location:INTRON

Gene Symbol:TTC31
Accession:XM_047445419
Location:INTRON

Gene Symbol:TTC31
Accession:XM_047445417
Location:INTRON

Gene Symbol:TTC31
Accession:XM_047445418
Location:INTRON

Gene Symbol:TTC31
Accession:NR_027749
Location:INTRON;NON-CODING

Gene Symbol:TTC31
Accession:NR_164770
Location:INTRON;NON-CODING

Gene Symbol:TTC31
Accession:NR_164772
Location:INTRON;NON-CODING

Gene Symbol:TTC31
Accession:NR_164771
Location:INTRON;NON-CODING

Gene Symbol:TTC31
Accession:NR_164774
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004152958 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TTC31 CLINVAR