rs770940344 Rat Genome Database

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Variant: rs770940344 -  Homo sapiens

RGD ID: 126736739
RS ID: rs770940344
ClinVar ID: CV1021198
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NRL  PCK2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 24,567,423
GRCh38 14 24,098,214
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011697.2:g.21801C>T
NG_008162.2:g.8941G>A
NC_000014.9:g.24098214G>A
NC_000014.8:g.24567423G>A
More... 		02/16/2018 5 prime utr variant uncertain significance none provided; PCK2 DEFICIENCY; PEPCK2 DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PCK2
Accession:NM_001308054
Location:5UTRS;EXON

Gene Symbol:PCK2
Accession:NM_001291556
Location:5UTRS;EXON

Gene Symbol:PCK2
Accession:XM_047431429
Location:5UTRS;EXON

Gene Symbol:PCK2
Accession:XM_047431428
Location:5UTRS;EXON

Gene Symbol:NRL
Accession:NM_006177
Location:5UTRS;INTRON

Gene Symbol:NRL
Accession:NM_001354770
Location:5UTRS;INTRON

Gene Symbol:NRL
Accession:NM_001354768
Location:5UTRS;INTRON

Gene Symbol:PCK2
Accession:XM_006720158
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALYRPGLRLNWHGLSPLGWPSCRSIQTLRVLSGDLGQLPTGIRDFVEHSARLCQPEGIHICDGTEAENTATLTLLEQQ
GLIRKLPKYNNCWLAHTDPKDVARVESKTVIVTPSQRDTVPLPPGGARGQLGNWMSPADFQRAVDERFPGCMQGRTMYVL
PFSMGPVGSPLSRIGVQLTDSAYVVASMRIMTRLGTPVLQALGDGDFVKCLHSVGQPLTGQGEPVSQWPCNPEKTLIGHV
PDQREIISFGSGYGGNSLLGKKCFALRIASRLARDEGWLAEHMLILGITSPAGKKRYVAAAFPSACGKTNLAMMRPALPG
WKVECVGDDIAWMRFDSEGRLRAINPENGFFGVAPGTSATTNPNAMATIQSNTIFTNVAETSDGGVYWEGIDQPLPPGVT
VTSWLGKPWKPGDKEPCAHPNSRFCAPARQCPIMDPAWEAPEGVPIDAIIFGGRRPKGVPLVYEAFNWRHGVFVGSAMRS
ESTAAAEHKGLLGTGGS*

Gene Symbol:PCK2
Accession:NM_004563
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALYRPGLRLNWHGLSPLGWPSCRSIQTLRVLSGDLGQLPTGIRDFVEHSARLCQPEGIHICDGTEAENTATLTLLEQQ
GLIRKLPKYNNCWLAHTDPKDVARVESKTVIVTPSQRDTVPLPPGGARGQLGNWMSPADFQRAVDERFPGCMQGRTMYVL
PFSMGPVGSPLSRIGVQLTDSAYVVASMRIMTRLGTPVLQALGDGDFVKCLHSVGQPLTGQGEPVSQWPCNPEKTLIGHV
PDQREIISFGSGYGGNSLLGKKCFALRIASRLARDEGWLAEHMLILGITSPAGKKRYVAAAFPSACGKTNLAMMRPALPG
WKVECVGDDIAWMRFDSEGRLRAINPENGFFGVAPGTSATTNPNAMATIQSNTIFTNVAETSDGGVYWEGIDQPLPPGVT
VTSWLGKPWKPGDKEPCAHPNSRFCAPARQCPIMDPAWEAPEGVPIDAIIFGGRRPKGVPLVYEAFNWRHGVFVGSAMRS
ESTAAAEHKGKIIMHDPFAMRPFFGYNFGHYLEHWLSMEGRKGAQLPRIFHVNWFRRDEAGHFLWPGFGENARVLDWICR
RLEGEDSARETPIGLVPKEGALDLSGLRAIDTTQLFSLPKDFWEQEVRDIRSYLTEQVNQDLPKEVLAELEALERRVHKM
*

Gene Symbol:PCK2
Accession:NM_001018073
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 96
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAALYRPGLRLNWHGLSPLGWPSCRSIQTLRVLSGDLGQLPTGIRDFVEHSARLCQPEGIHICDGTEAENTATLTLLEQQ
GLIRKLPKYNNCWLAHTDPKDVARVESKTVIVTPSQRDTVPLPPGGARGQLGNWMSPADFQRAVDERFPGCMQGRTMYVL
PFSMGPVGSPLSRIGVQLTDSAYVVASMRIMTRLGTPVLQALGDGDFVKCLHSVGQPLTGQGEPVSQWPCNPEKTLIGHV
PDQREIISFGSGYGGNSLLGKKCFALRIASRLARDEGWLAEHMLILGITSPAGKKRYVAAAFPSACGKTNLAMMRPALPG
WKVECVGDDIAWMRFDSEGRLRAINPENGFFGVAPGTSATTNPNAMATIQSNTIFTNVAETSDGGVYWEGIDQPLPPGVT
VTSWLGKPWKPGMCGGEGVAQPPGLSTLMVEKLSPQPPTIF*

Gene Symbol:NRL
Accession:XM_011536806
Location:INTRON

Gene Symbol:NRL
Accession:XM_011536801
Location:INTRON

Gene Symbol:NRL
Accession:NM_001354769
Location:INTRON

Gene Symbol:NRL
Accession:XM_011536805
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001335152 CLINVAR
  RCV003698862 CLINVAR
dbSNP (RS) rs770940344 CLINVAR
MedGen C1849821 CLINVAR
  C3661900 CLINVAR
NCBI Gene NRL CLINVAR
  PCK2 CLINVAR
OMIM 162080 CLINVAR
  261650 CLINVAR
  614095 CLINVAR