RGD:13526603 Rat Genome Database

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Variant: RGD:13526603 -  Homo sapiens

RGD ID: 13526603
RS ID: rs760694007
ClinVar ID: CV505931
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM231  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 75,589,771
GRCh38 16 75,555,873
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_033109.1:g.5414C>T
NC_000016.9:g.75589771G>A
NM_001077416.2:c.399C>T
NC_000016.10:g.75555873G>A
More... 		02/13/2018 non-coding transcript variant|synonymous variant likely benign AllHighlyPenetrant; Meckel syndrome, type 11
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM231
Accession:NM_001077418
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 80
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGF
LAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQ
SSFPVPGSQLYVNGDLRLQQKQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAAD
APFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS*

Gene Symbol:TMEM231
Accession:NM_001077416
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRRSQTWSPGSRSACERCSWRSMSSSLTRSSAVTARGSAPKPRCSCCWPLRSRTSRRCWWPSGATVSLPRPLCHEAPR
ARSARAGLPNRLPTALFNSGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREE
DRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQKQPLSCG
GLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAADAPFVINAIIRYPVEVISYQPGFWEMVK
FAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS*

Gene Symbol:TMEM231
Accession:NR_074083
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000604348 CLINVAR
  RCV002064304 CLINVAR
dbSNP (RS) rs760694007 CLINVAR
MedGen C3554235 CLINVAR
  CN169374 CLINVAR
NCBI Gene TMEM231 CLINVAR
OMIM 614949 CLINVAR
  614970 CLINVAR
  615397 CLINVAR