rs118126947 Rat Genome Database

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Variant: rs118126947 -  Homo sapiens

RGD ID: 15144847
RS ID: rs118126947
ClinVar ID: CV740239
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AKTIP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 53,528,057
GRCh38 16 53,494,145
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001012398.3:c.703G>A
NM_001308325.2:c.703G>A
NP_001012398.1:p.Ala235Thr
NM_022476.4:c.703G>A
More... 		06/20/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:AKTIP
Accession:XM_005256098
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:XM_005256097
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:NM_022476
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:XM_047434486
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:NM_001308325
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:XM_005256096
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:XM_017023566
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:XM_047434485
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:XM_005256095
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:XM_017023565
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:NM_001012398
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*

Gene Symbol:AKTIP
Accession:XM_017023564
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 235
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPFWSMSTSSVRKRSEGEEKTLTGDVKTSPPRTAPKKQLPSIPKNALPITKPTSPAPAAQSTNGTHASYGPFYLEYSLL
AEFTLVVKQKLPGVYVQPSYRSALMWFGVIFIRHGLYQDGVFKFTVYIPDNYPDGDCPRLVFDIPVFHPLVDPTSGELDV
KRAFAKWRRNHNHIWQVLMYARRVFYKIDTASPLNPEAAVLYEKDIQLFKSKVVDSVKVCTARLFDQPKIEDPYTISFSP
WNPSVHDEAREKMLTQKKPEEQHNKSVHVAGLSWVKPGSVQPFSKEEKTVAT*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000900067 CLINVAR
dbSNP (RS) rs118126947 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene AKTIP CLINVAR
OMIM 608483 CLINVAR