RGD:401934531 Rat Genome Database

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Variant: RGD:401934531 -  Homo sapiens

RGD ID: 401934531
ClinVar ID: CV2817811
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ZFP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 75,200,719
GRCh38 16 75,166,821
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318473.2:c.-23-2432G>C
NM_001318474.2:c.-23-2432G>C
NM_001318471.2:c.-33G>C
NM_001318472.2:c.-33G>C
More... 		01/01/2023 5 prime utr variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ZFP1
Accession:NM_001318471
Location:5UTRS;EXON

Gene Symbol:ZFP1
Accession:NM_001318472
Location:5UTRS;EXON

Gene Symbol:ZFP1
Accession:XM_047433670
Location:5UTRS;EXON

Gene Symbol:ZFP1
Accession:NM_001318473
Location:5UTRS;INTRON

Gene Symbol:ZFP1
Accession:NM_001318474
Location:5UTRS;INTRON

Gene Symbol:ZFP1
Accession:NM_153688
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKSQGSVSFTDVTVDFTQEEWQQLDPSQRILYMDVMLENYSNLLSVEVWKADDQMERDHRNPDEQARQFLILKNQTPIE
ERGDLFGKALNLNTDFVSLRQVPYKYDLYEKTLKYNSDLLNSNRSYAGKQTDECNEFGKALLYLKQEKTHSGVEYSEYNK
SGKALSHKAAIFKHQKIKNLVQPFICTYCDKAFSFKSLLISHKRIHTGEKPYECNVCKKTFSHKANLIKHQRIHTGEKPF
ECPECGKAFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGERPYECNECAKTFFKKSNLIIHQKIHTG
EKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECGKTFSQRSTLRLHLRIHTGEKPYECSECGKAFSRKSRLSVHQR
VHIGEKP*

Gene Symbol:ZFP1
Accession:XM_011522921
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 49
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHCYGAFKMWLSSAFIVLCLCPKLQKMNKSQGSVSFTDVTVDFTQEEWQQLDPSQRILYMDVMLENYSNLLSVEVWKADD
QMERDHRNPDEQARQFLILKNQTPIEERGDLFGKALNLNTDFVSLRQVPYKYDLYEKTLKYNSDLLNSNRSYAGKQTDEC
NEFGKALLYLKQEKTHSGVEYSEYNKSGKALSHKAAIFKHQKIKNLVQPFICTYCDKAFSFKSLLISHKRIHTGEKPYEC
NVCKKTFSHKANLIKHQRIHTGEKPFECPECGKAFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGER
PYECNECAKTFFKKSNLIIHQKIHTGEKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECGKTFSQRSTLRLHLRIH
TGEKPYECSECGKAFSRKSRLSVHQRVHIGEKP*

Gene Symbol:ZFP1
Accession:NM_001318469
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKSQGSVSFTDVTVDFTQEEWQQLDPSQRILYMDVMLENYSNLLSVEVWKADDQMERDHRNPDEQARQFLILKNQTPIE
ERGDLFGKALNLNTDFVSLRQVPYKYDLYEKTLKYNSDLLNSNRSYAGKQTDECNEFGKALLYLKQEKTHSGVEYSEYNK
SGKALSHKAAIFKHQKIKNLVQPFICTYCDKAFSFKSLLISHKRIHTGEKPYECNVCKKTFSHKANLIKHQRIHTGEKPF
ECPECGKAFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGERPYECNECAKTFFKKSNLIIHQKIHTG
EKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECGKTFSQRSTLRLHLRIHTGEKPYECSECGKAFSRKSRLSVHQR
VHIGEKP*

Gene Symbol:ZFP1
Accession:NM_001318476
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKSQGSVSFTDVTVDFTQEEWQQLDPSQRILYMDVMLENYSNLLSVGKDGFQKCGRLMTRWRETTETQTSRRGNF*

Gene Symbol:ZFP1
Accession:NM_001318475
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKSQGSVSFTDVTVDFTQEEWQQLDPSQRILYMDVMLENYSNLLSVGKDGFQKCGRLMTRWRETTETQTSRRGNF*

Gene Symbol:ZFP1
Accession:XM_024450168
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKSQGSVSFTDVTVDFTQEEWQQLDPSQRILYMDVMLENYSNLLSVGKDGFQKCGRLMTRWRETTETQTSRRGNF*

Gene Symbol:ZFP1
Accession:XM_047433669
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 23
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKSQGSVSFTDVTVDFTQEEWQQLDPSQRILYMDVMLENYSNLLSVEVWKADDQMERDHRNPDEQARQFLILKNQTPIE
ERGDLFGKALNLNTDFVSLRQVPYKYDLYEKTLKYNSDLLNSNRSYAGKQTDECNEFGKALLYLKQEKTHSGVEYSEYNK
SGKALSHKAAIFKHQKIKNLVQPFICTYCDKAFSFKSLLISHKRIHTGEKPYECNVCKKTFSHKANLIKHQRIHTGEKPF
ECPECGKAFTHQSNLIVHQRAHMEKKPYECSECGKTFAQKFELTTHQRIHTGERPYECNECAKTFFKKSNLIIHQKIHTG
EKRYECSECGKSFIQNSQLIIHMRTHTGEKPYECTECGKTFSQRSTLRLHLRIHTGEKPYECSECGKAFSRKSRLSVHQR
VHIGEKP*

Gene Symbol:ZFP1
Accession:XM_047433668
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003411424 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ZFP1 CLINVAR
OMIM 617230 CLINVAR