RGD:151725671 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:151725671 -  Homo sapiens

RGD ID: 151725671
RS ID: rs374069780
ClinVar ID: CV1455730
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ALAD  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 116,151,739
GRCh38 9 113,389,459
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001317745.2:c.756C>A
NM_000031.6:c.780C>A
NG_008716.1:g.16880C>A
NC_000009.12:g.113389459G>T
More...
08/17/2022 synonymous variant likely benign|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ALAD
Accession:NM_001317745
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 252
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKD
ERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPS
DMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADM
LMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLK
EE*

Gene Symbol:ALAD
Accession:XM_047422947
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 197
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRA
EESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRC
YQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEA
MTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:ALAD
Accession:XM_047422945
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQLWTLPCRSSVYWHETEPAANAPGALGSNQLMPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVT
DVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVA
CDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSA
KFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHV
SGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:ALAD
Accession:XM_011518364
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 269
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEE
GLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLA
EVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGAR
GLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAG
ADIIITYYTPQLLQWLKEE*

Gene Symbol:ALAD
Accession:XM_047422946
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPTSSTPSLSRPGLGQAGKPDTGSHPPPTISTSIFLSCFPTIPLSRPRTTGPSHSYQSISHPRSCRDVPDDIQPITSLP
GVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGH
CGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDA
AKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQA
GAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:ALAD
Accession:NM_000031
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 260
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVTDVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFG
VPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKA
GCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDR
DVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYT
PQLLQWLKEE*

Gene Symbol:ALAD
Accession:NM_001003945
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPTSSTPSLSRPGLGQAGKPDTGSHPPPTISTSIFLSCFPTIPLSRPRTTGPSHSYQSISHPRSCRDVPDDIQPITSLP
GVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVACDVCLCPYTSHGH
CGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSAKFASCFYGPFRDA
AKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHVSGEFAMLWHGAQA
GAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Gene Symbol:ALAD
Accession:XM_047422944
Location:EXON
Amino Acid Prediction: I to I (synonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNQLWTLPCRSSVYWHETEPAANAPGALGSNQLMPLCPLAHAMQPQSVLHSGYFHPLLRAWQTATTTLNASNLIYPIFVT
DVPDDIQPITSLPGVARYGVKRLEEMLRPLVEEGLRCVLIFGVPSRVPKDERGSAADSEESPAIEAIHLLRKTFPNLLVA
CDVCLCPYTSHGHCGLLSENGAFRAEESRQRLAEVALAYAKAGCQVVAPSDMMDGRVEAIKEALMAHGLGNRVSVMSYSA
KFASCFYGPFRDAAKSSPAFGDRRCYQLPPGARGLALRAVDRDVREGADMLMVKPGMPYLDIVREVKDKHPDLPLAVYHV
SGEFAMLWHGAQAGAFDLKAAVLEAMTAFRRAGADIIITYYTPQLLQWLKEE*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002020747 CLINVAR
dbSNP (RS) rs374069780 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ALAD CLINVAR
OMIM 125270 CLINVAR