RGD:156061512 Rat Genome Database

RGD:156061512 Rat Genome Database

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Variant: RGD:156061512 - Homo sapiens

RGD ID:

156061512

ClinVar ID:

CV2392005

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	6	28,116,337
GRCh38	6	28,148,559

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001278121.2:c.-424G>A NM_001278122.2:c.-424G>A NM_001278119.2:c.152G>A NM_006298.4:c.152G>A More...	09/17/2021	5 prime utr variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZKSCAN8
Accession:	NM_001278122
Location:	5UTRS;EXON

Gene Symbol:	ZKSCAN8
Accession:	NM_001278121
Location:	5UTRS;EXON

Gene Symbol:	ZKSCAN8
Accession:	XM_011514874
Location:	5UTRS;INTRON

Gene Symbol:	ZKSCAN8
Accession:	NM_006298
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFHLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSPTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	NM_001278119
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFHLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSPTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	XM_011514870
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFHLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSPTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	XM_017011266
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFHLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSPTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

Gene Symbol:	ZKSCAN8
Accession:	XM_047419315
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	51

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAEESRKPSAPSPPDQTPEEDLVIVKVEEDHGWDQESSLHESNPLGQEVFHLRFRQLRYQETLGPREALIQLRALCHQWL RPDLNTKEQILELLVLEQFLTILPEELQTLVKEHQLENGEEVVTLLEDLERQIDILGRPVSARVHGHRVLWEEVVHSASA PEPPNTQLQSEATQHKSPVPQESQERAMSTSQSPTRSQKGSSGDQEMTATLLTAGFQTLEKIEDMAVSLIREEWLLDPSQ KDLCRDNRPENFRNMFSLGGETRSENRELASKQVISTGIQPHGETAAKCNGDVIRGLEHEEARDLLGRLERQRGNPTQER RHKCDECGKSFAQSSGLVRHWRIHTGEKPYQCNVCGKAFSYRSALLSHQDIHNKVKRYHCKECGKAFSQNTGLILHQRIH TGEKPYQCNQCGKAFSQSAGLILHQRIHSGERPYECNECGKAFSHSSHLIGHQRIHTGEKPYECDECGKTFRRSSHLIGH QRSHTGEKPYKCNECGRAFSQKSGLIEHQRIHTGERPYKCKECGKAFNGNTGLIQHLRIHTGEKPYQCNECGKAFIQRSS LIRHQRIHSGEKSESISV*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004235862	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZKSCAN8	CLINVAR
OMIM	602240	CLINVAR