RGD:11583223 Rat Genome Database

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Variant: RGD:11583223 -  Homo sapiens

RGD ID: 11583223
RS ID: rs138148950
ClinVar ID: CV292875
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRPS22  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 139,065,874
GRCh38 3 139,347,032
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012174.1:g.8014A>G
NC_000003.12:g.139347032A>G
NC_000003.11:g.139065874A>G
NP_064576.1:p.Ala109=
More... 		12/31/2019 synonymous variant benign|likely benign|uncertain significance Combined oxidative phosphorylation deficiency 5; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MRPS22
Accession:NM_001363857
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 68
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRNETEHRYLGTHFGAESGSPETKKPTFMDEEVQSILTKMTGLNLQKTFKPAIQELKPPTYKLMTQAQLEEATRQAVEA
AKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTDISYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEG
RKILTPIIFKEENLRTMYSQDRHVDVLNLCFAQFEPDSTEYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKI
DGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQAAEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS*

Gene Symbol:MRPS22
Accession:NM_020191
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSFEMGLPRRRFSSEAAESGSPETKKPTFMDEEVQSILT
KMTGLNLQKTFKPAIQELKPPTYKLMTQAQLEEATRQAVEAAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTD
ISYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEGRKILTPIIFKEENLRTMYSQDRHVDVLNLCFAQFEPDST
EYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKIDGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQ
AAEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS*

Gene Symbol:MRPS22
Accession:NM_001363893
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSFEMGLPRRRFSSEAESGSPETKKPTFMDEEVQSILTK
MTGLNLQKTFKPAIQELKPPTYKLMTQAQLEEATRQAVEAAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTDI
SYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEGRKILTPIIFKEENLRTMYSQDRHVDVLNLCFAQFEPDSTE
YIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKIDGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQA
AEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000265078 CLINVAR
  RCV000931370 CLINVAR
  RCV003932388 CLINVAR
dbSNP (RS) rs138148950 CLINVAR
MedGen C2673642 CLINVAR
  C3661900 CLINVAR
NCBI Gene MRPS22 CLINVAR
OMIM 605810 CLINVAR
  611719 CLINVAR