RGD:155911494 Rat Genome Database

RGD:155911494 Rat Genome Database

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Variant: RGD:155911494 - Homo sapiens

RGD ID:

155911494

ClinVar ID:

CV2303830

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	28,116,543
GRCh38	6	28,148,765

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006298.2:c.358G>C NP_001265048.1:p.Glu120Gln NP_006289.2:p.Glu120Gln NM_001278121.2:c.-218G>C More...	10/12/2022	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:	E to Q (nonsynonymous)
Amino Acid Position:	120

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

Gene Symbol:	ZKSCAN8
Accession:	NM_001278119
Location:	EXON
Amino Acid Prediction:	E to Q (nonsynonymous)
Amino Acid Position:	120

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

Gene Symbol:	ZKSCAN8
Accession:	XM_011514870
Location:	EXON
Amino Acid Prediction:	E to Q (nonsynonymous)
Amino Acid Position:	120

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

Gene Symbol:	ZKSCAN8
Accession:	XM_017011266
Location:	EXON
Amino Acid Prediction:	E to Q (nonsynonymous)
Amino Acid Position:	120

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

Gene Symbol:	ZKSCAN8
Accession:	XM_047419315
Location:	EXON
Amino Acid Prediction:	E to Q (nonsynonymous)
Amino Acid Position:	120

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004163667	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZKSCAN8	CLINVAR
OMIM	602240	CLINVAR