RGD:405127343 Rat Genome Database

RGD:405127343 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:405127343 - Homo sapiens

RGD ID:

405127343

ClinVar ID:

CV3013798

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	6	10,402,838
GRCh38	6	10,402,605

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001032280.3:c.752A>G NM_001042425.3:c.758A>G NM_001372066.1:c.776A>G NG_016151.1:g.21960A>G More...	04/11/2023	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	TFAP2A
Accession:	NM_001372066
Location:	EXON
Amino Acid Prediction:	K to R (nonsynonymous)
Amino Acid Position:	259

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKMLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVND PYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEE VPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRL SPPECLNASLLGGVLRRARSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVA EFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTAL QNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK*

Gene Symbol:	TFAP2A
Accession:	NM_001042425
Location:	EXON
Amino Acid Prediction:	K to R (nonsynonymous)
Amino Acid Position:	253

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSILAKMGDWQDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNP LHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVED PGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECL NASLLGGVLRRARSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQ HSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTE ALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK*

Gene Symbol:	TFAP2A
Accession:	NM_001032280
Location:	EXON
Amino Acid Prediction:	K to R (nonsynonymous)
Amino Acid Position:	251

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLVHSFSAMDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLH AQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPG INIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNA SLLGGVLRRARSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHS DPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEAL KAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003701341	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	TFAP2A	CLINVAR
OMIM	107580	CLINVAR