RGD:12743088 Rat Genome Database

Variant: RGD:12743088 - Homo sapiens

RGD ID:

12743088

RS ID:

rs782794876

ClinVar ID:

CV361375

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127887611 MILR1 POLG2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	17	62,492,768
GRCh38	17	64,496,650

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_013029.1:g.5417C>A NC_000017.11:g.64496650G>T NC_000017.10:g.62492768G>T NP_009146.2:p.Arg107= NM_007215.4:c.319C>A More...	04/30/2017	synonymous variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	MILR1
Accession:	XM_024450708
Location:	3UTRS;EXON

Gene Symbol:	POLG2
Accession:	NM_007215
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQVCQ GLFNELLENGISVWPGYLETMQSSLEQLYSKYDEMSILFTVLVTETTLENGLIHLRSRDTTMKEMMHISKLKDFLIKYIS SAKNV*

Gene Symbol:	POLG2
Accession:	XM_047435222
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQFWL LKLLWRMD*

Gene Symbol:	POLG2
Accession:	XM_047435223
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQV*

Gene Symbol:	POLG2
Accession:	XM_047435221
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQLFR RLRHKNHLNLGGGGCSEPRSQHCTPAWVTEQDPASEKKKKKKKALIK*

Gene Symbol:	POLG2
Accession:	XM_047435224
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	107

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS KLHMQRHSPT*

Gene Symbol:	POLG2
Accession:	XR_007065259
Location:	EXON;NON-CODING

Gene Symbol:	MILR1
Accession:	XR_002957990
Location:	EXON;NON-CODING

Gene Symbol:	MILR1
Accession:	NM_001085423
Location:	INTRON

Gene Symbol:	MILR1
Accession:	NM_001291316
Location:	INTRON

Gene Symbol:	MILR1
Accession:	NM_001291317
Location:	INTRON

Gene Symbol:	MILR1
Accession:	NM_001369493
Location:	INTRON

Gene Symbol:	MILR1
Accession:	XM_047435789
Location:	INTRON

Gene Symbol:	MILR1
Accession:	XM_024450707
Location:	INTRON

Gene Symbol:	MILR1
Accession:	XM_047435790
Location:	INTRON

Gene Symbol:	MILR1
Accession:	XM_047435791
Location:	INTRON

Gene Symbol:	MILR1
Accession:	XM_047435793
Location:	INTRON

Gene Symbol:	MILR1
Accession:	XM_047435792
Location:	INTRON

Gene Symbol:	MILR1
Accession:	XR_002957989
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000415993	CLINVAR
dbSNP (RS)	rs782794876	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	MILR1	CLINVAR
	POLG2	CLINVAR
OMIM	604983	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:12743088 - Homo sapiens