RGD:11662637 Rat Genome Database

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Variant: RGD:11662637 -  Homo sapiens

RGD ID: 11662637
RS ID: rs886060738
ClinVar ID: CV300202
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MCCC2  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 70,948,579
GRCh38 5 71,652,752
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008882.1:g.70465A>T
NC_000005.10:g.71652752A>T
NC_000005.9:g.70948579A>T
NP_071415.1:p.Ala524=
More... 		12/31/2018 synonymous variant conflicting interpretations of pathogenicity|uncertain significance 3 alpha methylcrotonyl-CoA carboxylase 2 deficiency; 3 alpha methylcrotonylglycinuria 2; MCC 2 deficiency; Methylcrotonylglycinuria type 2; METHYLCROTONYLGLYCINURIA, TYPE II; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MCCC2
Accession:NM_022132
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 524
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQIAVVMGSCTAGGAYVPAMADENIIVRKQGTIF
LAGPPLVKAATGEEVSAEDLGGADLHCRKSGVSDHWALDDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGI
VGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTGFARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLF
LQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKITLIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAAN
VLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGNPYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGI
FRM*

Gene Symbol:MCCC2
Accession:NM_001363147
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 486
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWAVLRLALRPCARASPAGPRAYHGDSVASLGTQPDLGSALYQENYKQMKALVNQLHERVEHIKLGGGEKARALHISRGK
LLPRERIDNLIDPGSPFLELSQFAGYQLYDNEEVPGGGIITGIGRVSGVECMIIANDATVKGGAYYPVTVKKQLRAQEIA
MQNRLPCIYLVDSGGAYLPRQADVFPDRDHFGRTFYNQAIMSSKNIAQVKAATGEEVSAEDLGGADLHCRKSGVSDHWAL
DDHHALHLTRKVVRNLNYQKKLDVTIEPSEEPLFPADELYGIVGANLKRSFDVREVIARIVDGSRFTEFKAFYGDTLVTG
FARIFGYPVGIVGNNGVLFSESAKKGTHFVQLCCQRNIPLLFLQNITGFMVGREYEAEGIAKDGAKMVAAVACAQVPKIT
LIIGGSYGAGNYGMCGRAYSPRFLYIWPNARISVMGGEQAANVLATITKDQRAREGKQFSSADEAALKEPIIKKFEEEGN
PYYSSARVWDDGIIDPADTRLVLGLSFSAALNAPIEKTDFGIFRM*

Gene Symbol:MCCC2
Accession:XM_017009688
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_011543529
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417469
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417468
Location:INTRON

Gene Symbol:MCCC2
Accession:XM_047417470
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000387843 CLINVAR
  RCV000595205 CLINVAR
dbSNP (RS) rs886060738 CLINVAR
MedGen C1859499 CLINVAR
  C3661900 CLINVAR
NCBI Gene MCCC2 CLINVAR
OMIM 210210 CLINVAR
  609014 CLINVAR