RGD:14703349 Rat Genome Database

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Variant: RGD:14703349 -  Homo sapiens

RGD ID: 14703349
RS ID: rs532487848
ClinVar ID: CV648569
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MKKS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 10,385,954
GRCh38 20 10,405,306
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_170784.3:c.1654G>A
NM_018848.3:c.1654G>A
NP_061336.1:p.Ala552Thr
NP_740754.1:p.Ala552Thr
More... 		11/25/2018 missense variant uncertain significance Hydrometrocolpos syndrome; Hydrometrocolpos, postaxial polydactyly, and congenital heart malformation; McKusick-Kaufman syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MKKS
Accession:NM_018848
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 552
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTAS
IQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTS
KPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALK
VALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTL
MEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLT
LKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSV
QADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVTVETANLIL
DLSYVIEDKN*

Gene Symbol:MKKS
Accession:NM_170784
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 552
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSRLEAKKPSLCKSEPLTTERVRTTLSVLKRIVTSCYGPSGRLKQLHNGFGGYVCTTSQSSALLSHLLVTHPILKILTAS
IQNHVSSFSDCGLFTAILCCNLIENVQRLGLTPTTVIRLNKHLLSLCISYLKSETCGCRIPVDFSSTQILLCLVRSILTS
KPACMLTRKETEHVSALILRAFLLTIPENAEGHIILGKSLIVPLKGQRVIDSTVLPGILIEMSEVQLMRLLPIKKSTALK
VALFCTTLSGDTSDTGEGTVVVSYGVSLENAVLDQLLNLGRQLISDHVDLVLCQKVIHPSLKQFLNMHRIIAIDRIGVTL
MEPLTKMTGTQPIGSLGSICPNSYGSVKDVCTAKFGSKHFFHLIPNEATICSLLLCNRNDTAWDELKLTCQTALHVLQLT
LKEPWALLGGGCTETHLAAYIRHKTHNDPESILKDDECTQTELQLIAEAFCSALESVVGSLEHDGGEILTDMKYGHLWSV
QADSPCVANWPDLLSQCGCGLYNSQEELNWSFLRSTRRPFVPQSCLPHEAVGSASNLTLDCLTAKLSGLQVTVETANLIL
DLSYVIEDKN*

Gene Symbol:MKKS
Accession:NR_072977
Location:EXON;NON-CODING

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000793349 CLINVAR
dbSNP (RS) rs532487848 CLINVAR
MedGen C0752166 CLINVAR
NCBI Gene MKKS CLINVAR
OMIM 236700 CLINVAR
  604896 CLINVAR
SNOMED CT 5619004 CLINVAR