RGD:14705572 Rat Genome Database

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Variant: RGD:14705572 -  Homo sapiens

RGD ID: 14705572
RS ID: rs1597051521
ClinVar ID: CV644978
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM231  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 75,590,097
GRCh38 16 75,556,199
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001070884.2:p.Met25Val
NR_074083.2:n.54A>G
NC_000016.10:g.75556199T>C
NM_001077418.3:c.11A>G
More... 		10/10/2018 missense variant uncertain significance 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: Y to C (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALCELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGF
LAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQ
SSFPVPGSQLYVNGDLRLQQKQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAAD
APFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS*

Gene Symbol:TMEM231
Accession:NM_001077416
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRRSQTWSPGSRSACERCSWRSVSSSLTRSSAVTARGSAPKPRCSCCWPLRSRTSRRCWWPSGATVSLPRPLCHEAPR
ARSARAGLPNRLPTALFNSGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREE
DRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQKQPLSCG
GLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAADAPFVINAIIRYPVEVISYQPGFWEMVK
FAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS*

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

Variant Samples
Additional References at PubMed
PMID:23012439   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000801217 CLINVAR
dbSNP (RS) rs1597051521 CLINVAR
MedGen C3554235 CLINVAR
NCBI Gene TMEM231 CLINVAR
OMIM 614949 CLINVAR
  614970 CLINVAR
  615397 CLINVAR