RGD:156101443 Rat Genome Database

RGD:156101443 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:156101443 - Homo sapiens

RGD ID:

156101443

ClinVar ID:

CV2393021

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	16	67,429,057
GRCh38	16	67,395,154

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_013304.3:c.1078G>A NM_001323627.2:c.1104+33G>A NC_000016.10:g.67395154C>T NC_000016.9:g.67429057C>T More...	04/22/2022	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	ZDHHC1
Accession:	NM_013304
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	360

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNAKHSRPASPDPTPGRRDCAGPPVQMEWDRKKPLPWRSPLLLLAMWGPQAPPCLCRKRGRGACIKC ERLRPRIRRRGLGPPAAAPARRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRV RPPFS*

Gene Symbol:	ZDHHC1
Accession:	XM_011523060
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	275

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGFDHHCK WLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQAPAILA LAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRHMRPEP PGQAGPAAVNAKHSRPASPDPTPGRRDCAGPPVQMEWDRKKPLPWRSPLLLLAMWGPQAPPCLCRKRGRGACIKCERLRP RIRRRGLGPPAAAPARRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRVRPPFS *

Gene Symbol:	ZDHHC1
Accession:	XM_024450245
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	360

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYKMNICNKPSNKTAPEKSVWTAPAQPSGPSPELQGQRSRRNGWSWPPHPLQIVAWLLYLFFAVIGFGILVPLLPHHWVP AGYACMGAIFAGHLVVHLTAVSIDPADANVRDKSYAGPLPIFNRSQHAHVIEDLHCNLCNVDVSARSKHCSACNKCVCGF DHHCKWLNNCVGERNYRLFLHSVASALLGVLLLVLVATYVFVEFFVNPMRLRTNRHFEVLKNHTDVWFVFLPAAPVETQA PAILALAALLILLGLLSTALLGHLLCFHIYLMWHKLTTYEYIVQHRPPQEAKGVHRELESCPPKMRPIQEMEFYMRTFRH MRPEPPGQAGPAAVNAKHSRPASPDPTPGRRDCAGPPVQMEWDRKKPLPWRSPLLLLAMWGPQAPPCLCRKRGRGACIKC ERLRPRIRRRGLGPPAAAPARRRIPRTPALCTPLALPAPTTRRRQSPWTRFQWRRRAWAAPLWPPRGAGADSPRWRGRRV RPPFS*

Gene Symbol:	ZDHHC1
Accession:	XM_006721185
Location:	INTRON

Gene Symbol:	ZDHHC1
Accession:	NM_001323627
Location:	INTRON

Gene Symbol:	ZDHHC1
Accession:	XM_024450247
Location:	INTRON

Gene Symbol:	ZDHHC1
Accession:	XM_024450246
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004242873	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ZDHHC1	CLINVAR