RGD:401726898 Rat Genome Database

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Variant: RGD:401726898 -  Homo sapiens

RGD ID: 401726898
ClinVar ID: CV2691890
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TTC31  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 74,717,554
GRCh38 2 74,490,427
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.-17G>T
NR_164772.1:n.328G>T
NR_164774.1:n.328G>T
NR_164773.1:n.431G>T
More... 		03/29/2023 5 prime utr variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TTC31
Accession:NM_001376138
Location:5UTRS;EXON

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

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

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

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

Gene Symbol:TTC31
Accession:NM_001376140
Location:5UTRS;EXON

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

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

Gene Symbol:TTC31
Accession:NM_022492
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKLGTSFAQNGF
YHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETL
RGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHYPSCHRSH
PNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:XM_011533035
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQEKDLGRLRPQDLLDFAPYPQASPGLLAA
ALQQSQELAKLGTSFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLG
KALMGLQRFREAAAVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRST
ALRSPGLSPLLHYPSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376134
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLRILDYLLGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLV
TEEEANRLAEELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSL
DLSSTFVSLALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKL
GTSFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFRE
AAAVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLL
HYPSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376135
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLRILDYLLGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLV
TEEEANRLAEELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSL
DLSSTFVSLALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKASPGLLAAALQQSQELAKLGT
SFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAA
AVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHY
PSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376130
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKLGTSFAQNGF
YHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETL
RGGSQPDAARELRSCLLHLTLGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHYPSCHRSHP
NQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376136
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKLGTSFAQNGF
YHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETL
RAGSARRNLCTTSVTWGPPATSPC*

Gene Symbol:TTC31
Accession:NM_001376137
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKLGTSFAQNGF
YHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETL
RGSARRNLCTTSVTWGPPATSPC*

Gene Symbol:TTC31
Accession:NM_001376129
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKEKDLGRLRPQDLLDFAPYPQASPGLLAAAL
QQSQELAKLGTSFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKA
LMGLQRFREAAAVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTAL
RSPGLSPLLHYPSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376132
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKASPGLLAAALQQSQELAKLGTSFAQNGFYH
EAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETLRG
GSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHYPSCHRSHPN
QPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:NM_001376133
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKASPGLLAAALQQSQELAKLGTSFAQNGFYH
EAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFREAAAVFQETLRG
GSQPDAARELRSCLLHLTLGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLLHYPSCHRSHPNQ
PLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:XM_047445422
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQEKDLGRLRPQDLLDFAPYPQASPGLLAA
ALQQSQELSWVPALLKMVSTMRPWSSSPRP*

Gene Symbol:TTC31
Accession:XM_047445423
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELSWVPALLKMVST
MRPWSSSPRP*

Gene Symbol:TTC31
Accession:XM_047445424
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 139
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPIPKTVGRIKLDCSLRPSCPLEVAAAPKLCKEFGPEDYGEEDIVDFLRRLVESDPQGLHRIHVDGSSGRLQLWHHDYL
LGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLVTEEEANRLA
EELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSLDLSSTFVSL
ALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKASPGLLAAALQQSQELSWVPALLKMVSTMR
PWSSSPRP*

Gene Symbol:TTC31
Accession:XM_047445419
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLRILDYLLGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLV
TEEEANRLAEELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSL
DLSSTFVSLALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQASPGLLAAALQQSQELAKL
GTSFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWPRGLFRLGKALMGLQRFRE
AAAVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPSLRCPRSTALRSPGLSPLL
HYPSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:XM_047445417
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLRILDYLLGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLV
TEEEANRLAEELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSL
DLSSTFVSLALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKVQEKDLGRLRPQDLLDFAPYP
QASPGLLAAALQQSQELAKLGTSFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPG
WPRGLFRLGKALMGLQRFREAAAVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGL
PSLRCPRSTALRSPGLSPLLHYPSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

Gene Symbol:TTC31
Accession:XM_047445418
Location:EXON
Amino Acid Prediction: S to I (nonsynonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLRILDYLLGHLDDEGKSTGQSDRGKGAEGLGTYCGLRKSFLYPPQESEPCPQSPSASATFPSVSDILLQVAMPQKLLV
TEEEANRLAEELVAEEERMKQKAEKKRLKKKRQKERKRQERLEQYCGEPKASTTSDGDESPPSSPGNPVQGQCGEEEDSL
DLSSTFVSLALRKVGDWPLSARREKGLNQEPQGRGLALQKMGQEEESPPREERPQQSPKEKDLGRLRPQDLLDFAPYPQA
SPGLLAAALQQSQELAKLGTSFAQNGFYHEAVVLFTQALKLNPQDHRLFGNRSFCHERLGQPAWALADAQVALTLRPGWP
RGLFRLGKALMGLQRFREAAAVFQETLRGGSQPDAARELRSCLLHLTLQGQRGGICAPPLSPGALQPLPHAELAPSGLPS
LRCPRSTALRSPGLSPLLHYPSCHRSHPNQPLSQTQSRRPHPLKPQDPSKGWDILGLGLQHLSQAR*

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004299629 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TTC31 CLINVAR