rs2147507742 Rat Genome Database

rs2147507742 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs2147507742 - Homo sapiens

RGD ID:

152073359

RS ID:

rs2147507742

ClinVar ID:

CV1657476

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	20	13,773,870
GRCh38	20	13,793,224

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001352406.2:c.-190T>A NM_001352407.2:c.-190T>A NM_001352408.2:c.372T>A NM_024120.5:c.372T>A More...	08/16/2023	5 prime utr variant	likely benign	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

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

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

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

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

Gene Symbol:	NDUFAF5
Accession:	NM_024120
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD TDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAE RGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	NM_001039375
Location:	EXON
Amino Acid Prediction:	L to H (nonsynonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMHCLHWVNDLPRALEQIHYILKPDGVFIGAM FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVDTDEIQVNYPGMFELMEDLQGMGESNCAW NRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_006723624
Location:	EXON
Amino Acid Prediction:	L to H (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_011529342
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVK QGAWASRAPDVGKEPPGREELTGWRTRLGTEENPGGFTPVTSVDLLLTFKWPESIETAS*

Gene Symbol:	NDUFAF5
Accession:	NM_001352403
Location:	EXON
Amino Acid Prediction:	L to H (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR PAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	NM_001352408
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVG KALIDNV*

Gene Symbol:	NDUFAF5
Accession:	XM_047440469
Location:	EXON
Amino Acid Prediction:	A to A (synonymous)
Amino Acid Position:	124

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKETIGKFFQADIAENALKNSSETEIPTVSVLADEEFLPFKENTFDLVVSSLS LHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVD TDEIQVNYPGMFELMEDLQEMYRNEDGSVPATYQIYYMIGWKYHESQARPAERGSATVSFGELGKINNLMPPGKKSQ*

Gene Symbol:	NDUFAF5
Accession:	XM_047440470
Location:	EXON
Amino Acid Prediction:	L to H (nonsynonymous)
Amino Acid Position:	131

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLRPAGLWRLCRRPWAARVPAENLGRREVTSGVSPRGSTSPRTLNIFDRDLKRKQKNWAARQPEPTKFDYLKEEVGSRIA DRVYDIPRNFPLALDLGCGRGYIAQYLNKLQLFHCRKLLESFSKLTLQKMHCLHWVNDLPRALEQIHYILKPDGVFIGAM FGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTLTVGKALIDNV*

Gene Symbol:	NDUFAF5
Accession:	XM_047440471
Location:	EXON
Amino Acid Prediction:	L to H (nonsynonymous)
Amino Acid Position:	2

Amino Acid Sequence (Calculated using NCBI transcript definition)
MHCLHWVNDLPRALEQIHYILKPDGVFIGAMFGGDTLYELRCSLQLAETEREGGFSPHISPFTAVNDLGHLLGRAGFNTL TVDTDEIQVNYPGMFELMEDLQGMGESNCAWNRKALLHRDTMLAAAAVYREMYRNEDGSVPATYQIYYMIGWKYHESQAR PAERGSATVSFGELGKINNLMPPGKKSQ*

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002210271	CLINVAR
dbSNP (RS)	rs2147507742	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	NDUFAF5	CLINVAR
OMIM	612360	CLINVAR