RGD:15194329 Rat Genome Database

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Variant: RGD:15194329 -  Homo sapiens

RGD ID: 15194329
RS ID: rs1321389143
ClinVar ID: CV720952
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOK7  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 4 3,494,652
GRCh38 4 3,492,925
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256896.2:c.9T>G
NM_001164673.2:c.*160T>G
NM_001363811.2:c.507T>G
NM_001301071.2:c.939T>G
More... 		08/17/2017 3 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:DOK7
Accession:NM_001164673
Location:3UTRS;EXON

Gene Symbol:DOK7
Accession:XM_047450079
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 231
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQPSQQPGGRKCGHMAAFLGCDPSSRWHSSLLLWPWSPEGTLLDVSGVSWLLHLPSRRLWGQGRWDLGAEEGLIKCLLGG
RAATSPHPPKQARKAGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLE
KRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPL
RPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLR
AHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHA
GPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:DOK7
Accession:NM_001256896
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLP
GTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPA
PGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:DOK7
Accession:NM_173660
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:DOK7
Accession:XM_047450080
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLP
GTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPA
PGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPSSRKQLH
YMGLELQEASEGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*

Gene Symbol:DOK7
Accession:XM_047450081
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLP
GTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPA
PGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP*

Gene Symbol:DOK7
Accession:XM_047450078
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSSSWPGTSPRLSRGSGSCLTSGATGPCQADSSLKAGPGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPD
PSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEG
PRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAA
GAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEA
PQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSVRPHAPSCFHPHPSPPNLGSKLGRT
DAILKRGTRLQGGVQPHRGQAPALPLGFKAPFPDARPRRSLSSPQALTPPASPTTPSWPSPSAMPPPLGSWPCWPCPCWP
RCLPGHQNLAAMFCGSSR*

Gene Symbol:DOK7
Accession:NM_001363811
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 169
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVAGAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGP
STVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAA
QAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPS
LCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEA
TLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPS
SRKQLHYMGLELQEASEGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*

Gene Symbol:DOK7
Accession:XM_011513435
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKGAAASAPGPATAHSVRPHAPSCFHPHPSPPNLGSKLGRTDAILKRGTRLQGGVQPHRGQAP
ALPLGFKAPFPDARPRRSLSSPQALTPPASPTTPSWPSPSAMPPPLGSWPCWPCPCWPRCLPGHQNLAAMFCGSSR*

Gene Symbol:DOK7
Accession:NM_001301071
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 313
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAI
VCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRY
GAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQ
LEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPK
PLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTS
LRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGP
HAGPPPAFFSACPVCGGLKGAAASAPGPATAHSGSPGPVAVDSPGPERPRGESPTYVNIPVSPSSRKQLHYMGLELQEAS
EGVRGAGASLYAQIDIMATETAHRVGVRHARAREEQLSELEQRKAAPQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000889193 CLINVAR
dbSNP (RS) rs1321389143 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene DOK7 CLINVAR
OMIM 610285 CLINVAR