RGD:405787164 Rat Genome Database

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Variant: RGD:405787164 -  Homo sapiens

RGD ID: 405787164
ClinVar ID: CV3339843
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC101929319  TNFAIP6  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 152,220,506
GRCh38 2 151,363,992
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007115.4:c.144G>T
NC_000002.12:g.151363992G>T
NC_000002.11:g.152220506G>T
NM_007115.3:c.144G>T
More... 		11/09/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TNFAIP6
Accession:NM_007115
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIILIYLFLLLWEDTQGWGFKDGIFHNSIWLERAAGVYHREARSGKYNLTYAEAKAVCEFEGGHLATYKQLEAARKIGFH
VCAAGWMAKGRVGYPIVKPGPNCGFGKTGIIDYGIRLNRSERWDAYCYNPHAKECGGVFTDPKQIFKSPGFPNEYEDNQI
CYWHIRLKYGQRIHLSFLDFDLEDDPGCLADYVEIYDSYDDVHGFVGRYCGDELPDDIISTGNVMTLKFLSDASVTAGGF
QIKYVAMDPVSKSSQGKNTSTTSTGNKNFLAGRFSHL*

Gene Symbol:TNFAIP6
Accession:XM_047445635
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIILIYLFLLLWEDTQGWGFKDGIFHNSIWLERAAGVYHREARSGKYNLTYAEAKAVCEFEGGHLATYKQLEAARKIGFH
VCAAGWMAKGRVGYPIVKPGPNCGFGKTGIIDYGIRLNRSERWDAYCYNPHAKECGGVFTDPKQIFKSPGFPNEYEDNQI
CYWHIRLKYGQRIHLSFLDFDLEDDPGCLADYVEIYDSYDDVHGFVGRYCGDELPDDIISTGRKKHSCYSVMRDVGTQTI
P*

Gene Symbol:LOC101929319
Accession:NR_110248
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004473079 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC101929319 CLINVAR
  TNFAIP6 CLINVAR
OMIM 600410 CLINVAR