RGD:156104777 Rat Genome Database

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Variant: RGD:156104777 -  Homo sapiens

RGD ID: 156104777
ClinVar ID: CV2400316
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZC2HC1C  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 75,538,315
GRCh38 14 75,071,612
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000014.8:g.75538315G>A
NM_024643.2:c.1039G>A
NP_001317120.1:p.Val347Met
NP_078919.2:p.Val347Met
More... 		09/16/2021 intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ZC2HC1C
Accession:NM_024643
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLQRLASHLPVGVMLPHNTTEAPGPHSAKQDSYEQGDSSQQSLKGHLRNNFQKQLLSNKELILDKVYTHPKWNTQTKA
RSYSYPHCTGISQQDPESDSQGQGNGLFYSSGPQSWYPKANNQDFIPFTKKRVGVDRAFPLKPMVHRKSCSTGEAGTDGD
HNVYPRPPEPREFSSRNFGVRNQGNFSVVGTVLAATQAEKAVANFDRTEWVQIRRLEAAGESLEEEIRRKQILLRGKLKK
TEEELRRIQTQKEQAKENENGELQKIILPRSRVKGNKSNTMYKPIFSPEFEFEEEFSRDRREDETWGRSQQNSGPFQFSD
YRIQRLKRERLVASNNKIRDPVSEPSMEKFSPPSETPVGALQGSARNSSLSMAPDSSGSSGSIEEPQLGECSHCGRKFLS
FRLERHSNICSRMRGSKRKVFDSSRARAKGTELEQYLNWKGPASAKAEPPQKSNWR*

Gene Symbol:ZC2HC1C
Accession:XM_005268062
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLQRLASHLPVGVMLPHNTTEAPGPHSAKQDSYEQGDSSQQSLKGHLRNNFQKQLLSNKELILDKVYTHPKWNTQTKA
RSYSYPHCTGISQQDPESDSQGQGNGLFYSSGPQSWYPKANNQDFIPFTKKRVGVDRAFPLKPMVHRKSCSTGEAGTDGD
HNVYPRPPEPREFSSRNFGVRNQGNFSVVGTVLAATQAEKAVANFDRTEWVQIRRLEAAGESLEEEIRRKQILLRGKLKK
TEEELRRIQTQKEQAKENENGELQKIILPRSRVKGNKSNTMYKPIFSPEFEFEEEFSRDRREDETWGRSQQNSGPFQFSD
YRIQRLKRERLVASNNKIRDPVSEPSMEKFSPPSETPVGALQGSARNSSLSMAPDSSGSSGSIEEPQLGECSHCGRKFLS
FRLERHSNICSRMRGSKRKVFDSSRARAKGTELEQYLNWKGPASAKAEPPQKSNWR*

Gene Symbol:ZC2HC1C
Accession:XM_011537155
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLQRLASHLPVGVMLPHNTTEAPGPHSAKQDSYEQGDSSQQSLKGHLRNNFQKQLLSNKELILDKVYTHPKWNTQTKA
RSYSYPHCTGISQQDPESDSQGQGNGLFYSSGPQSWYPKANNQDFIPFTKKRVGVDRAFPLKPMVHRKSCSTGEAGTDGD
HNVYPRPPEPREFSSRNFGVRNQGNFSVVGTVLAATQAEKAVANFDRTEWVQIRRLEAAGESLEEEIRRKQILLRGKLKK
TEEELRRIQTQKEQAKENENGELQKIILPRSRVKGNKSNTMYKPIFSPEFEFEEEFSRDRREDETWGRSQQNSGPFQFSD
YRIQRLKRERLVASNNKIRDPVSEPSMEKFSPPSETPVGALQGSARNSSLSMAPDSSGSSGSIEEPQLGECSHCGRKFLS
FRLERHSNICSRMRGSKRKVFDSSRARAKGTELEQYLNWKGPASAKAEPPQKSNWR*

Gene Symbol:ZC2HC1C
Accession:XM_011537156
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLQRLASHLPVGVMLPHNTTEAPGPHSAKQDSYEQGDSSQQSLKGHLRNNFQKQLLSNKELILDKVYTHPKWNTQTKA
RSYSYPHCTGISQQDPESDSQGQGNGLFYSSGPQSWYPKANNQDFIPFTKKRVGVDRAFPLKPMVHRKSCSTGEAGTDGD
HNVYPRPPEPREFSSRNFGVRNQGNFSVVGTVLAATQAEKAVANFDRTEWVQIRRLEAAGESLEEEIRRKQILLRGKLKK
TEEELRRIQTQKEQAKENENGELQKIILPRSRVKGNKSNTMYKPIFSPEFEFEEEFSRDRREDETWGRSQQNSGPFQFSD
YRIQRLKRERLVASNNKIRDPVSEPSMEKFSPPSETPVGALQGSARNSSLSMAPDSSGSSGSIEEPQLGECSHCGRKFLS
FRLERHSNICSRMRGSKRKVFDSSRARAKGTELEQYLNWKGPASAKAEPPQKSNWR*

Gene Symbol:ZC2HC1C
Accession:NM_001330191
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 347
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGLQRLASHLPVGVMLPHNTTEAPGPHSAKQDSYEQGDSSQQSLKGHLRNNFQKQLLSNKELILDKVYTHPKWNTQTKA
RSYSYPHCTGISQQDPESDSQGQGNGLFYSSGPQSWYPKANNQDFIPFTKKRVGVDRAFPLKPMVHRKSCSTGEAGTDGD
HNVYPRPPEPREFSSRNFGVRNQGNFSVVGTVLAATQAEKAVANFDRTEWVQIRRLEAAGESLEEEIRRKQILLRGKLKK
TEEELRRIQTQKEQAKENENGELQKIILPRSRVKGNKSNTMYKPIFSPEFEFEEEFSRDRREDETWGRSQQNSGPFQFSD
YRIQRLKRERLVASNNKIRDPVSEPSMEKFSPPSETPVGALQGSARNSSLSMAPDSSGSSGSIEEPQLG*

Gene Symbol:ZC2HC1C
Accession:NM_001042430
Location:INTRON

Gene Symbol:ZC2HC1C
Accession:NR_110315
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004244375 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ZC2HC1C CLINVAR