Product Details

SNP ID

rs143763676

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:2184631 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCATTCCAGCCACAGATCACAGAC[A/G]ACTACGGTCTGGACAACTTTGACAC

Phenotype

MIM: 615183 MIM: 176982

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

FAAP20 PubMed Links

Gene Details

Gene

FAAP20

Gene Name

Fanconi anemia core complex associated protein 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146310.1	1693	UTR 3			NP_001139782.1
NM_001256945.1	1693	UTR 3			NP_001243874.1
NM_001256946.1	1693	Intron			NP_001243875.1
NM_001256947.1	1693	Intron			NP_001243876.1
NM_001282670.1	1693	Intron			NP_001269599.1
NM_001282671.1	1693	UTR 3			NP_001269600.1
NM_001282672.1	1693	UTR 3			NP_001269601.1
NM_001282673.1	1693	UTR 3			NP_001269602.1
NM_182533.2	1693	Intron			NP_872339.2
XM_006710419.3	1693	Intron			XP_006710482.1
XM_006710421.3	1693	Intron			XP_006710484.1
XM_011540914.2	1693	Intron			XP_011539216.1
XM_011540921.2	1693	Intron			XP_011539223.1
XM_011540922.1	1693	Intron			XP_011539224.1
XM_017000553.1	1693	Intron			XP_016856042.1
XM_017000554.1	1693	UTR 3			XP_016856043.1
XM_017000555.1	1693	Intron			XP_016856044.1
XM_017000556.1	1693	Intron			XP_016856045.1
XM_017000557.1	1693	Intron			XP_016856046.1

Gene

LOC100506504

Gene Name

uncharacterized LOC100506504

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011542503.2	1693	Intron			XP_011540805.1

Gene

PRKCZ

Gene Name

protein kinase C zeta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033581.1	1693	Missense Mutation	AAC,GAC	N359D	NP_001028753.1
NM_001033582.1	1693	Missense Mutation	AAC,GAC	N359D	NP_001028754.1
NM_001242874.1	1693	Missense Mutation	AAC,GAC	N438D	NP_001229803.1
NM_002744.4	1693	Missense Mutation	AAC,GAC	N542D	NP_002735.3
XM_011541773.1	1693	Intron			XP_011540075.1
XM_011541774.1	1693	Intron			XP_011540076.1
XM_011541775.2	1693	Intron			XP_011540077.1
XM_011541776.1	1693	Intron			XP_011540078.1
XM_011541778.1	1693	Intron			XP_011540080.1
XM_017001789.1	1693	Intron			XP_016857278.1
XM_017001790.1	1693	Missense Mutation	AAC,GAC	N550D	XP_016857279.1
XM_017001791.1	1693	Missense Mutation	AAC,GAC	N460D	XP_016857280.1
XM_017001792.1	1693	Intron			XP_016857281.1
XM_017001793.1	1693	Intron			XP_016857282.1
XM_017001794.1	1693	Intron			XP_016857283.1
XM_017001795.1	1693	Intron			XP_016857284.1
XM_017001796.1	1693	Missense Mutation	AAC,GAC	N367D	XP_016857285.1
XM_017001797.1	1693	Intron			XP_016857286.1
XM_017001798.1	1693	Missense Mutation	AAC,GAC	N367D	XP_016857287.1
XM_017001799.1	1693	Missense Mutation	AAC,GAC	N359D	XP_016857288.1
XM_017001800.1	1693	Intron			XP_016857289.1
XM_017001801.1	1693	Missense Mutation	AAC,GAC	N355D	XP_016857290.1
XM_017001802.1	1693	Intron			XP_016857291.1
XM_017001803.1	1693	Intron			XP_016857292.1
XM_017001804.1	1693	Missense Mutation	AAC,GAC	N305D	XP_016857293.1
XM_017001805.1	1693	Missense Mutation	AAC,GAC	N305D	XP_016857294.1

View Full Product Details