RGD:13523760 Rat Genome Database

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Variant: RGD:13523760 -  Homo sapiens

RGD ID: 13523760
RS ID: rs149118721
ClinVar ID: CV492696
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM231  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 75,574,039
GRCh38 16 75,540,141
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001077416.2:c.963C>T
NG_033109.1:g.21146C>T
NC_000016.10:g.75540141G>A
NC_000016.9:g.75574039G>A
More... 		11/21/2020 non-coding transcript variant|synonymous variant benign|likely benign AllHighlyPenetrant; Meckel syndrome, type 11; none provided; TMEM231-related condition
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM231
Accession:NM_001077416
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATRRSQTWSPGSRSACERCSWRSMSSSLTRSSAVTARGSAPKPRCSCCWPLRSRTSRRCWWPSGATVSLPRPLCHEAPR
ARSARAGLPNRLPTALFNSGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGFLAWSTFPAFNRLQGDRLRVPLVSTREE
DRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQSSFPVPGSQLYVNGDLRLQQKQPLSCG
GLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAADAPFVINAIIRYPVEVISYQPGFWEMVK
FAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS*

Gene Symbol:TMEM231
Accession:NM_001077418
Location:EXON
Amino Acid Prediction: F to F (synonymous)
Amino Acid Position: 268
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALYELFSHPVERSYRAGLCSKAALFLLLAAALTYIPPLLVAFRSHGFWLKRSSYEEQPTVRFQHQVLLVALLGPESDGF
LAWSTFPAFNRLQGDRLRVPLVSTREEDRNQDGKTDMLHFKLELPLQSTEHVLGVQLILTFSYRLHRMATLVMQSMAFLQ
SSFPVPGSQLYVNGDLRLQQKQPLSCGGLDARYNISVINGTSPFAYDYDLTHIVAAYQERNVTTVLNDPNPIWLVGRAAD
APFVINAIIRYPVEVISYQPGFWEMVKFAWVQYVSILLIFLWVFERIKIFVFQNQVVTTIPVTVTPRGDLCKEHLS*

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000593408 CLINVAR
  RCV000908085 CLINVAR
  RCV001704694 CLINVAR
  RCV003962713 CLINVAR
dbSNP (RS) rs149118721 CLINVAR
MedGen C3554235 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TMEM231 CLINVAR
OMIM 614949 CLINVAR
  614970 CLINVAR
  615397 CLINVAR