rs139301835 Rat Genome Database

rs139301835 Rat Genome Database

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Variant: rs139301835 - Homo sapiens

RGD ID:

152065310

RS ID:

rs139301835

ClinVar ID:

CV1601434

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	158,579,375
GRCh38	6	158,158,343

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_032861.4:c.21C>T NG_032889.1:g.14938C>T NC_000006.12:g.158158343G>A NC_000006.11:g.158579375G>A More...	12/22/2023	non-coding transcript variant	likely benign	3-METHYLGLUTACONIC ACIDURIA, TYPE VI; MEGDEL syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1601434	Human	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome		IAGP		8554872	ClinVar Annotator: match by term: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	ClinVar	PMID:28492532

Gene Symbol:	SERAC1
Accession:	XM_006715586
Location:	5UTRS;EXON

Gene Symbol:	SERAC1
Accession:	NM_032861
Location:	EXON
Amino Acid Prediction:	C to C (synonymous)
Amino Acid Position:	7

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTV SLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHH WHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMR VIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIH GLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELS KDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRT LQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_024446573
Location:	EXON
Amino Acid Prediction:	C to C (synonymous)
Amino Acid Position:	7

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTV SLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHH WHDYQYRIIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMR VIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIH GLMGAAFKTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELS KDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRT LQFIREALAKDLEN*

Gene Symbol:	SERAC1
Accession:	XM_047419421
Location:	EXON
Amino Acid Prediction:	R to C (nonsynonymous)
Amino Acid Position:	13

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQETKNVPGCLLCHLLQKNRNLYFPTKKWHTLERYQGSLFLTYEVLALKKAVTLDTQVVEREKMKSYIYVHTVSLDKGEN HGIAWQARKELHKAVRKVLATSAKILRNPFADPFSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHHWHDYQYR IIAQACDPKTLIGLARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQSLAAQKG GLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQLLQRLYRLHKDCPKVQRNIMRVIGNMAL NEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAARILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIHGLMGAAF KTWRQQDSEQAVIEKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLRKLRAAGV GDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLAEYSVNIRYLLFPSLEVKELSKDSPALK TLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIKLHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQFIREA LAKDLEN*

Gene Symbol:	SERAC1
Accession:	NR_073096
Location:	EXON;NON-CODING

Gene Symbol:	SERAC1
Accession:	XR_007059349
Location:	EXON;NON-CODING

Gene Symbol:	SERAC1
Accession:	XM_011536198
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002168566	CLINVAR
dbSNP (RS)	rs139301835	CLINVAR
MedGen	C4040739	CLINVAR
NCBI Gene	SERAC1	CLINVAR
OMIM	614725	CLINVAR
	614739	CLINVAR