RGD:13437439 Rat Genome Database

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Variant: RGD:13437439 -  Homo sapiens

RGD ID: 13437439
RS ID: rs370231886
ClinVar ID: CV414703
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TWNK  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 102,749,019
GRCh38 10 100,989,262
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012624.1:g.6727A>G
NC_000010.11:g.100989262A>G
NC_000010.10:g.102749019A>G
NP_068602.2:p.Asn351Ser
More... 		08/27/2021 intron variant pathogenic|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TWNK
Accession:NM_001163814
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NM_001163813
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NM_001368275
Location:5UTRS;INTRON

Gene Symbol:TWNK
Accession:NM_001163812
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA
LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKL
FARKLNPKRCFLVRPGDQQPRPLEALNGGFSLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNR
ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR
KEDDDKELQTASIFGSAKVSGL*

Gene Symbol:TWNK
Accession:NM_021830
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 351
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWVLLRSGYPLRILLPLRGEWMGRRGLPRNLAPGPPRRRYRKETLQALDMPVLPVTATEIRQYLRGHGIPFQDGHSCLRA
LSPFAESSQLKGQTGVTTSFSLFIDKTTGHFLCMTSLAEGSWEDFQASVEGRGDGAREGFLLSKAPEFEDSEEVRRIWNR
AIPLWELPDQEEVQLADTMFGLTKVTDDTLKRFSVRYLRPARSLVFPWFSPGGSGLRGLKLLEAKCQGDGVSYEETTIPR
PSAYHNLFGLPLISRRDAEVVLTSRELDSLALNQSTGLPTLTLPRGTTCLPPALLPYLEQFRRIVFWLGDDLRSWEAAKL
FARKLNPKRCFLVRPGDQQPRPLEALNGGFSLSRILRTALPAWHKSIVSFRQLREEVLGELSNVEQAAGLRWSRFPDLNR
ILKGHRKGELTVFTGPTGSGKTTFISEYALDLCSQGVNTLWGSFEISNVRLARVMLTQFAEGRLEDQLDKYDHWADRFED
LPLYFMTFHGQQSIRTVIDTMQHAVYVYDICHVIIDNLQFMMGHEQLSTDRIAAQDYIIGVFRKFATDNNCHVTLVIHPR
KEDDDKELQTASIFGSAKASQEADNVLILQDRKLVTGPGKRYLQVSKNRFDGDVGVFPLEFNKNSLTFSIPPKNKARLKK
IKDDTGPVAKKPSSGKKGATTQNSEICSGQAPTPDQPDTSKRSK*

Gene Symbol:TWNK
Accession:NR_160738
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_160742
Location:EXON;NON-CODING

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

Variant Samples
Additional References at PubMed
PMID:26689116   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001553334 CLINVAR
dbSNP (RS) rs370231886 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TWNK CLINVAR
OMIM 606075 CLINVAR