RGD:10410495 Rat Genome Database

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Variant: RGD:10410495 -  Homo sapiens

RGD ID: 10410495
RS ID: rs863224078
ClinVar ID: CV210944
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MRPS22  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 139,069,834
GRCh38 3 139,350,992
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.11974G>A
NC_000003.12:g.139350992G>A
NC_000003.11:g.139069834G>A
NP_064576.1:p.Asp222Asn
More... 		12/05/2014 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:MRPS22
Accession:NM_020191
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 222
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSFEMGLPRRRFSSEAAESGSPETKKPTFMDEEVQSILT
KMTGLNLQKTFKPAIQELKPPTYKLMTQAQLEEATRQAVEAAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTD
ISYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEGRKILTPIIFKEENLRTMYSQNRHVDVLNLCFAQFEPDST
EYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKIDGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQ
AAEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS*

Gene Symbol:MRPS22
Accession:NM_001363857
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 181
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRNETEHRYLGTHFGAESGSPETKKPTFMDEEVQSILTKMTGLNLQKTFKPAIQELKPPTYKLMTQAQLEEATRQAVEA
AKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTDISYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEG
RKILTPIIFKEENLRTMYSQNRHVDVLNLCFAQFEPDSTEYIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKI
DGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQAAEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS*

Gene Symbol:MRPS22
Accession:NM_001363893
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 221
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAPLGTTVLLWSLLRSSPGVERVCFRARIQPWHGGLLQPLPCSFEMGLPRRRFSSEAESGSPETKKPTFMDEEVQSILTK
MTGLNLQKTFKPAIQELKPPTYKLMTQAQLEEATRQAVEAAKVRLKMPPVLEERVPINDVLAEDKILEGTETTKYVFTDI
SYSIPHRERFIVVREPSGTLRKASWEERDRMIQVYFPKEGRKILTPIIFKEENLRTMYSQNRHVDVLNLCFAQFEPDSTE
YIKVHHKTYEDIDKRGKYDLLRSTRYFGGMVWYFVNNKKIDGLLIDQIQRDLIDDATNLVQLYHVLHPDGQSAQGAKDQA
AEGINLIKVFAKTEAQKGAYIELTLQTYQEALSRHSAAS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000198289 CLINVAR
dbSNP (RS) rs863224078 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene MRPS22 CLINVAR
OMIM 605810 CLINVAR