RGD:156339107 Rat Genome Database

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Variant: RGD:156339107 -  Homo sapiens

RGD ID: 156339107
ClinVar ID: CV2367406
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM255A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 119,419,030
GRCh38 X 120,285,175
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001104545.2:c.423+1979G>A
NM_001104544.3:c.464G>A
NM_017938.4:c.536G>A
NC_000023.11:g.120285175C>T
More...
10/26/2022 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TMEM255A
Accession:NM_017938
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVIAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVISSSTKNSPSTRVMRNLT
QAAREVNCPHLSREFCTPHIRGNTCFCCDLYNCGNRVEITGGYYEYIDVSSCQDIIHLYHLLWSATILNIVGLFLGIITA
AVLGGFKDMNPTLPALNCSVENTHPTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQHSGVFPSSPPSGLSDEPQSASPS
PSYMWSSSAPPRYSPPYYPPFEKPPPYSP*

Gene Symbol:TMEM255A
Accession:XM_047442231
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVIAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVISSSTKNSPSTRVMRNLT
QAAREVNCPHLSREFCTPHIRGNTCFCCDLYNCGKTQLSQH*

Gene Symbol:TMEM255A
Accession:XM_017029619
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVIAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVISSSTKNSPSTRVMRNLT
QAAREVNCPHLSREFCTPHIRGNTCFCCDLYNCGNRVEITGGYYEYIDVSSCQDIIHLYHLLWSATILNIVGLFLGIITA
AVLGGFKDMNPTLPALNCSVENTHPTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQGGPRDSTSRSEPTPKICDSTVEK
PFHITVKPLTEGQFGGAGDGGKR*

Gene Symbol:TMEM255A
Accession:XM_047442232
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVIAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVNCPHLSREFCTPHIRGNT
CFCCDLYNCGKTQLSQH*

Gene Symbol:TMEM255A
Accession:NM_001104544
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 155
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHQSLTQQRSSDMSLPDSMGAFNRRKRNSIYVTVTLLIVSVLILTVGLAATTRTQNVTVGGYYPGVILGFGSFLGIIGSN
LIENKRQMLVASIVFISFGVIAAFCCAIVDGVFAARHIDLKPLYANRCHYVPKTSQKEAEEVNCPHLSREFCTPHIRGNT
CFCCDLYNCGNRVEITGGYYEYIDVSSCQDIIHLYHLLWSATILNIVGLFLGIITAAVLGGFKDMNPTLPALNCSVENTH
PTVSYYAHPQVASYNTYYHSPPHLPPYSAYDFQHSGVFPSSPPSGLSDEPQSASPSPSYMWSSSAPPRYSPPYYPPFEKP
PPYSP*

Gene Symbol:TMEM255A
Accession:NM_001104545
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004209307 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene TMEM255A CLINVAR