RGD:401750282 Rat Genome Database

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Variant: RGD:401750282 -  Homo sapiens

RGD ID: 401750282
ClinVar ID: CV2737149
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSMC2  SLC26A5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 103,002,438
GRCh38 7 103,361,991
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_206884.3:c.1515-9065G>A
NM_001321787.2:c.1946-9065G>A
NM_206883.3:c.2042-9065G>A
NM_001204453.1:c.325C>T
More... 		04/04/2023 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PSMC2
Accession:NM_001204453
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDYLGADQRKTKEDEKDDKPIRALDEGDIALLKTYGQSTYSRQIKQVEDDIQQLLKKINELTGIKESDTGLAPPALWDL
AADKQTLQSEQPLQVARCTKIINADSEDSKYIINVKQFAKFVVDLSDQVAPTDIEEGMRVG*

Gene Symbol:PSMC2
Accession:NM_002803
Location:EXON
Amino Acid Prediction: P to S (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPDYLGADQRKTKEDEKDDKPIRALDEGDIALLKTYGQSTYSRQIKQVEDDIQQLLKKINELTGIKESDTGLAPPALWDL
AADKQTLQSEQPLQVARCTKIINADSEDSKYIINVKQFAKFVVDLSDQVAPTDIEEGMRVGVDRNKYQIHIPLPPKIDPT
VTMMQVEEKPDVTYSDVGGCKEQIEKLREVVETPLLHPERFVNLGIEPPKGVLLFGPPGTGKTLCARAVANRTDACFIRV
IGSELVQKYVGEGARMVRELFEMARTKKACLIFFDEIDAIGGARFDDGAGGDNEVQRTMLELINQLDGFDPRGNIKVLMA
TNRPDTLDPALMRPGRLDRKIEFSLPDLEGRTHIFKIHARSMSVERDIRFELLARLCPNSTGAEIRSVCTEAGMFAIRAR
RKIATEKDFLEAVNKVIKSYAKFSATPRYMTYN*

Gene Symbol:SLC26A5
Accession:NM_001321787
Location:INTRON

Gene Symbol:SLC26A5
Accession:XM_011516170
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_206883
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_001167962
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_206884
Location:INTRON

Gene Symbol:SLC26A5
Accession:XM_047420347
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_198999
Location:INTRON

Gene Symbol:SLC26A5
Accession:NM_206885
Location:INTRON

Gene Symbol:SLC26A5
Accession:NR_135801
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_135802
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_120443
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_120442
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:NR_120441
Location:INTRON;NON-CODING

Gene Symbol:SLC26A5
Accession:XR_007060034
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003314088 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PSMC2 CLINVAR
  SLC26A5 CLINVAR
OMIM 154365 CLINVAR
  604943 CLINVAR