RGD:28876716 Rat Genome Database

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Variant: RGD:28876716 -  Homo sapiens

RGD ID: 28876716
RS ID: rs375211888
ClinVar ID: CV872514
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALDH6A1  BBOF1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 74,535,656
GRCh38 14 74,068,953
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.9:g.74068953G>A
NC_000014.8:g.74535656G>A
NM_005589.3:c.759C>T
NP_001265522.1:p.Asp240=
More... 		01/13/2018 synonymous variant uncertain significance MMSDH DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ALDH6A1
Accession:NM_001278593
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 240
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMD
AAIASCKRAFPAWADTSVLSRQQKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETMPSITKDMDLYSYR
LPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHGQHEAVNFICDHPE
IKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMALSTAVLVGEAKKWL
PELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVGPTIISNVKPNMTC
YKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLPMFSFTGSRSSFRG
DTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:ALDH6A1
Accession:NM_005589
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 253
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALLAAAAVRARILQVSSKVKSSPTWYSASSFSSSVPTVKLFIGGKFVESKSDKWIDIHNPATNEVIGRVPQATKAEMD
AAIASCKRAFPAWADTSVLSRQQVLLRYQQLIKENLKEIAKLITLEQGKTLADAEGDVFRGLQVVEHACSVTSLMMGETM
PSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGTLNIIHG
QHEAVNFICDHPEIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAGQRCMAL
STAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYENGNFVG
PTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVPIPVPLP
MFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:ALDH6A1
Accession:NM_001278594
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMGETMPSITKDMDLYSYRLPLGVCAGIAPFNFPAMIPLWMFPMAMVCGNTFLMKPSERVPGATMLLAKLLQDSGAPDGT
LNIIHGQHEAVNFICDHPEIKAISFVGSNKAGEYIFERGSRHGKRVQANMGAKNHGVVMPDANKENTLNQLVGAAFGAAG
QRCMALSTAVLVGEAKKWLPELVEHAKNLRVNAGDQPGADLGPLITPQAKERVCNLIDSGTKEGASILLDGRKIKVKGYE
NGNFVGPTIISNVKPNMTCYKEEIFGPVLVVLETETLDEAIQIVNNNPYGNGTAIFTTNGATARKYAHLVDVGQVGVNVP
IPVPLPMFSFTGSRSSFRGDTNFYGKQGIQFYTQLKTITSQWKEEDATLSSPAVVMPTMGR*

Gene Symbol:BBOF1
Accession:XM_047431785
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_005268092
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431779
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537174
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021661
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021660
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431784
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431778
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537170
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021662
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431781
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537171
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537179
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537177
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431780
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537175
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431783
Location:INTRON

Gene Symbol:BBOF1
Accession:NM_025057
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537176
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_011537178
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_017021663
Location:INTRON

Gene Symbol:BBOF1
Accession:XM_047431782
Location:INTRON

Gene Symbol:BBOF1
Accession:XR_007064048
Location:INTRON;NON-CODING

Gene Symbol:BBOF1
Accession:XR_007064049
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001116361 CLINVAR
dbSNP (RS) rs375211888 CLINVAR
MedGen C3279840 CLINVAR
NCBI Gene ALDH6A1 CLINVAR
  BBOF1 CLINVAR
OMIM 603178 CLINVAR
  614105 CLINVAR
  620496 CLINVAR