RGD:401737171 Rat Genome Database

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Variant: RGD:401737171 -  Homo sapiens

RGD ID: 401737171
ClinVar ID: CV2718004
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101927432  TMEM108  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 133,099,631
GRCh38 3 133,380,787
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136469.3:c.1076C>G
NP_001129941.1:p.Pro359Arg
NP_076432.1:p.Pro359Arg
NC_000003.11:g.133099631C>G
More... 		05/23/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM108
Accession:NM_023943
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 359
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRSLQALYCQLLSFLLILALTEALAFAIQEPSPRESLQVLPSGTPPGTMVTAPHSSTRHTSVVMLTPNPDGPPSQAAAP
MATPTPRAEGHPPTHTISTIAATVTAPHSESSLSTGPAPAAMATTSSKPEGRPRGQAAPTILLTKPPGATSRPTTAPPRT
TTRRPPRPPGSSRKGAGNSSRPVPPAPGGHSRSKEGQRGRNPSSTPLGQKRPLGKIFQIYKGNFTGSVEPEPSTLTPRTP
LWGYSSSPQPQTVAATTVPSNTSWAPTTTSLGPAKDKPGLRRAAQGGGSTFTSQGGTPDATAASGAPVSPQAAPVPSQRP
HHGDPQDGPSHSDSWLTVTPGTSRPLSTSSGVFTAATGRTPAAFDTSVSAPSQGIPQGASTTPQAPTHPSRVSESTISGA
KEETVATLTMTDRVPSPLSTVVSTATGNFLNRLVPAGTWKPGTAGNISHVAEGDKPQHRATICLSKMDIAWVILAISVPI
SSCSVLLTVCCMKRKKKTANPENNLSYWNNTITMDYFNRHAVELPREIQSLETSEDQLSEPRSPANGDYRDTGMVLVNPF
CQETLFVGNDQVSEI*

Gene Symbol:TMEM108
Accession:NM_001136469
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 359
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRSLQALYCQLLSFLLILALTEALAFAIQEPSPRESLQVLPSGTPPGTMVTAPHSSTRHTSVVMLTPNPDGPPSQAAAP
MATPTPRAEGHPPTHTISTIAATVTAPHSESSLSTGPAPAAMATTSSKPEGRPRGQAAPTILLTKPPGATSRPTTAPPRT
TTRRPPRPPGSSRKGAGNSSRPVPPAPGGHSRSKEGQRGRNPSSTPLGQKRPLGKIFQIYKGNFTGSVEPEPSTLTPRTP
LWGYSSSPQPQTVAATTVPSNTSWAPTTTSLGPAKDKPGLRRAAQGGGSTFTSQGGTPDATAASGAPVSPQAAPVPSQRP
HHGDPQDGPSHSDSWLTVTPGTSRPLSTSSGVFTAATGRTPAAFDTSVSAPSQGIPQGASTTPQAPTHPSRVSESTISGA
KEETVATLTMTDRVPSPLSTVVSTATGNFLNRLVPAGTWKPGTAGNISHVAEGDKPQHRATICLSKMDIAWVILAISVPI
SSCSVLLTVCCMKRKKKTANPENNLSYWNNTITMDYFNRHAVELPREIQSLETSEDQLSEPRSPANGDYRDTGMVLVNPF
CQETLFVGNDQVSEI*

Gene Symbol:TMEM108
Accession:NM_001282865
Location:INTRON

Gene Symbol:LOC101927432
Accession:XR_007096107
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096100
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_001740921
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096105
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096099
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096101
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096106
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096098
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096108
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096095
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096104
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096103
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096097
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096096
Location:INTRON;NON-CODING

Gene Symbol:LOC101927432
Accession:XR_007096102
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004321946 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC101927432 CLINVAR
  TMEM108 CLINVAR
OMIM 617361 CLINVAR