rs2147507538 Rat Genome Database

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Variant: rs2147507538 -  Homo sapiens

RGD ID: 152034662
RS ID: rs2147507538
ClinVar ID: CV1666185
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFAF5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 13,773,843
GRCh38 20 13,793,197
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001352406.2:c.-217T>C
NM_001352407.2:c.-217T>C
NM_001352403.2:c.-23T>C
NM_001352408.2:c.345T>C
More... 		04/20/2023 5 prime utr variant likely benign none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:NDUFAF5
Accession:XM_006723624
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_001352407
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_001352406
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_001352403
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:XM_047440472
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:XM_047440471
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:XM_047440473
Location:5UTRS;EXON

Gene Symbol:NDUFAF5
Accession:NM_024120
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAE
RGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:NM_001039375
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESSSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM
FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAW
NRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_011529342
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVK
QGAWASRAPDVGKEPPGREELTGWRTRLGTEENPGGFTPVTSVDLLLTFKWPESIETAS*

Gene Symbol:NDUFAF5
Accession:NM_001352408
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVG
KALIDNV*

Gene Symbol:NDUFAF5
Accession:XM_047440469
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 115
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS
LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD
TDEIQVNYPGMFELMEDLQEMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:NDUFAF5
Accession:XM_047440470
Location:EXON
Amino Acid Prediction: F to S (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA
DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESSSKLTLQKMLCLHWVNDLPRALEQIHYILKPDGVFIGAM
FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVGKALIDNV*

Gene Symbol:NDUFAF5
Accession:NR_029377
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:XR_937140
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147983
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147982
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147981
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147979
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147978
Location:EXON;NON-CODING

Gene Symbol:NDUFAF5
Accession:NR_147980
Location:EXON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002106784 CLINVAR
dbSNP (RS) rs2147507538 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NDUFAF5 CLINVAR
OMIM 612360 CLINVAR