RGD:151754532 Rat Genome Database

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Variant: RGD:151754532 -  Homo sapiens

RGD ID: 151754532
RS ID: rs770345181
ClinVar ID: CV1335950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TWNK  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 102,749,552
GRCh38 10 100,989,795
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021830.5:c.1395A>C
NM_001163813.2:c.33A>C
NM_001163814.2:c.33A>C
NM_001368275.1:c.33A>C
More... 		12/12/2016 missense variant uncertain significance Familial spastic paraparesis
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TWNK
Accession:NM_021830
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 465
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA
LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKL
FARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNR
ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLDDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR
KEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKK
IKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK*

Gene Symbol:TWNK
Accession:NM_001163812
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 465
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA
LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKL
FARKLNPKRCFLVRPGDQQPRPLEALNGGFNLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNR
ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLDDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR
KEDDDKELQTASIFGSAKVSGL*

Gene Symbol:TWNK
Accession:NM_001163814
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTQFAEGRLDDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAA
QDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKVSGL*

Gene Symbol:TWNK
Accession:NM_001163813
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTQFAEGRLDDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAA
QDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDV
GVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK*

Gene Symbol:TWNK
Accession:NM_001368275
Location:EXON
Amino Acid Prediction: E to D (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLTQFAEGRLDDQLDKYDHWADRFEDLPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAA
QDYIIGVFRKFATDNNCHVTLVIHPRKEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDV
GVFPLEFNKNSLTFSIPPKNKARLKKIKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK*

Gene Symbol:TWNK
Accession:NR_160738
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160742
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160740
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160741
Location:EXON;NON-CODING

Gene Symbol:TWNK
Accession:NR_160739
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001848350 CLINVAR
dbSNP (RS) rs770345181 CLINVAR
MedGen C0037773 CLINVAR
NCBI Gene TWNK CLINVAR
OMIM 606075 CLINVAR
SNOMED CT 39912006 CLINVAR