RGD:13705579 Rat Genome Database

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Variant: RGD:13705579 -  Homo sapiens

RGD ID: 13705579
RS ID: rs1555668725
ClinVar ID: CV536953
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MILR1  POLG2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 62,488,815
GRCh38 17 64,492,698
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.62488815C>G
NG_013029.1:g.9370G>C
NC_000017.11:g.64492698C>G
NP_009146.2:p.Trp255Ser
More... 		05/17/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MILR1
Accession:XM_024450708
Location:3UTRS;INTRON

Gene Symbol:MILR1
Accession:XM_047435791
Location:3UTRS;INTRON

Gene Symbol:POLG2
Accession:XM_047435224
Location:EXON
Amino Acid Prediction: W to W (synonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHMQRHSPT*

Gene Symbol:POLG2
Accession:XM_047435223
Location:EXON
Amino Acid Prediction: W to W (synonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQV*

Gene Symbol:POLG2
Accession:XM_047435221
Location:EXON
Amino Acid Prediction: W to W (synonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQLFR
RLRHKNHLNLGGGGCSEPRSQHCTPAWVTEQDPASEKKKKKKKALIK*

Gene Symbol:POLG2
Accession:NM_007215
Location:EXON
Amino Acid Prediction: W to W (synonymous)
Amino Acid Position: 255
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: W to W (synonymous)
Amino Acid Position: 255
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSRVAVRACHKVCRCLLSGFGGRVDAGQPELLTERSSPKGGHVKSHAELEGNGEHPEAPGSGEGSEALLEICQRRHFLS
GSKQQLSRDSLLSGCHPGFGPLGVELRKNLAAEWWTSVVVFREQVFPVDALHHKPGPLLPGDSAFRLVSAETLREILQDK
ELSKEQLVAFLENVLKTSGKLRENLLHGALEHYVNCLDLVNKRLPYGLAQIGVCFHPVFDTKQIRNGVKSIGEKTEASLV
WFTPPRTSNQWLDFWLRHRLQWWRKFAMSPSNFSSSDCQDEEGRKGNKLYYNFPWGKELIETLWNLGDHELLHMYPGNVS
KLHGRDGRKNVVPCVLSVNGDLDRGMLAYLYDSFQLTENSFTRKKNLHRKVLKLHPCLAPIKVALDVGRGPTLELRQFWL
LKLLWRMD*

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

Gene Symbol:MILR1
Accession:NM_001291316
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435789
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001085423
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001369493
Location:INTRON

Gene Symbol:MILR1
Accession:XM_047435790
Location:INTRON

Gene Symbol:MILR1
Accession:XM_024450707
Location:INTRON

Gene Symbol:MILR1
Accession:NM_001291317
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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000658140 CLINVAR
dbSNP (RS) rs1555668725 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MILR1 CLINVAR
  POLG2 CLINVAR
OMIM 604983 CLINVAR