Product Details

SNP ID

rs185222252

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:2185400 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATGTTCCGATGATGTGGAAGCTC[C/T]TCTGATGCCTTTTTTCCGTGAGTGG

Phenotype

MIM: 615183 MIM: 176982

Polymorphism

C/T, 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	873	Missense Mutation	AGA,GGA	R191G	NP_001139782.1
NM_001256945.1	873	Missense Mutation	AGA,GGA	R150G	NP_001243874.1
NM_001256946.1	873	Intron			NP_001243875.1
NM_001256947.1	873	Intron			NP_001243876.1
NM_001282670.1	873	Intron			NP_001269599.1
NM_001282671.1	873	Missense Mutation	AGA,GGA	R108G	NP_001269600.1
NM_001282672.1	873	Missense Mutation	AGA,GGA	R108G	NP_001269601.1
NM_001282673.1	873	UTR 3			NP_001269602.1
NM_182533.2	873	Intron			NP_872339.2
XM_006710419.3	873	Intron			XP_006710482.1
XM_006710421.3	873	Intron			XP_006710484.1
XM_011540914.2	873	Intron			XP_011539216.1
XM_011540921.2	873	Intron			XP_011539223.1
XM_011540922.1	873	Intron			XP_011539224.1
XM_017000553.1	873	Intron			XP_016856042.1
XM_017000554.1	873	UTR 3			XP_016856043.1
XM_017000555.1	873	Missense Mutation	AGA,GGA	R108G	XP_016856044.1
XM_017000556.1	873	Missense Mutation	AGA,GGA	R108G	XP_016856045.1
XM_017000557.1	873	Intron			XP_016856046.1

Gene

LOC100506504

Gene Name

uncharacterized LOC100506504

There are no transcripts associated with this gene.

Gene

PRKCZ

Gene Name

protein kinase C zeta

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001033581.1	873	Intron			NP_001028753.1
NM_001033582.1	873	Intron			NP_001028754.1
NM_001242874.1	873	Intron			NP_001229803.1
NM_002744.4	873	Intron			NP_002735.3
XM_011541773.1	873	Intron			XP_011540075.1
XM_011541774.1	873	Intron			XP_011540076.1
XM_011541775.2	873	Intron			XP_011540077.1
XM_011541776.1	873	Intron			XP_011540078.1
XM_011541778.1	873	Intron			XP_011540080.1
XM_017001789.1	873	Intron			XP_016857278.1
XM_017001790.1	873	Intron			XP_016857279.1
XM_017001791.1	873	Intron			XP_016857280.1
XM_017001792.1	873	Intron			XP_016857281.1
XM_017001793.1	873	Intron			XP_016857282.1
XM_017001794.1	873	Intron			XP_016857283.1
XM_017001795.1	873	Intron			XP_016857284.1
XM_017001796.1	873	Intron			XP_016857285.1
XM_017001797.1	873	Intron			XP_016857286.1
XM_017001798.1	873	Intron			XP_016857287.1
XM_017001799.1	873	Intron			XP_016857288.1
XM_017001800.1	873	Intron			XP_016857289.1
XM_017001801.1	873	Intron			XP_016857290.1
XM_017001802.1	873	Intron			XP_016857291.1
XM_017001803.1	873	Intron			XP_016857292.1
XM_017001804.1	873	Intron			XP_016857293.1
XM_017001805.1	873	Intron			XP_016857294.1

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