Product Details

SNP ID

rs56402864

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:2184675 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGACACACAGTTCACCAGCGAGCC[C/G]GTGCAGCTGACCCCAGACGATGAGT

Phenotype

MIM: 615183 MIM: 176982

Polymorphism

C/G, Transversion 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	1737	UTR 3			NP_001139782.1
NM_001256945.1	1737	UTR 3			NP_001243874.1
NM_001256946.1	1737	Intron			NP_001243875.1
NM_001256947.1	1737	Intron			NP_001243876.1
NM_001282670.1	1737	Intron			NP_001269599.1
NM_001282671.1	1737	UTR 3			NP_001269600.1
NM_001282672.1	1737	UTR 3			NP_001269601.1
NM_001282673.1	1737	UTR 3			NP_001269602.1
NM_182533.2	1737	Intron			NP_872339.2
XM_006710419.3	1737	Intron			XP_006710482.1
XM_006710421.3	1737	Intron			XP_006710484.1
XM_011540914.2	1737	Intron			XP_011539216.1
XM_011540921.2	1737	Intron			XP_011539223.1
XM_011540922.1	1737	Intron			XP_011539224.1
XM_017000553.1	1737	Intron			XP_016856042.1
XM_017000554.1	1737	UTR 3			XP_016856043.1
XM_017000555.1	1737	Intron			XP_016856044.1
XM_017000556.1	1737	Intron			XP_016856045.1
XM_017000557.1	1737	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	1737	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	1737	Silent Mutation	CCC,CCG	P373P	NP_001028753.1
NM_001033582.1	1737	Silent Mutation	CCC,CCG	P373P	NP_001028754.1
NM_001242874.1	1737	Silent Mutation	CCC,CCG	P452P	NP_001229803.1
NM_002744.4	1737	Silent Mutation	CCC,CCG	P556P	NP_002735.3
XM_011541773.1	1737	Intron			XP_011540075.1
XM_011541774.1	1737	Intron			XP_011540076.1
XM_011541775.2	1737	Intron			XP_011540077.1
XM_011541776.1	1737	Intron			XP_011540078.1
XM_011541778.1	1737	Intron			XP_011540080.1
XM_017001789.1	1737	Intron			XP_016857278.1
XM_017001790.1	1737	Silent Mutation	CCC,CCG	P564P	XP_016857279.1
XM_017001791.1	1737	Silent Mutation	CCC,CCG	P474P	XP_016857280.1
XM_017001792.1	1737	Intron			XP_016857281.1
XM_017001793.1	1737	Intron			XP_016857282.1
XM_017001794.1	1737	Intron			XP_016857283.1
XM_017001795.1	1737	Intron			XP_016857284.1
XM_017001796.1	1737	Silent Mutation	CCC,CCG	P381P	XP_016857285.1
XM_017001797.1	1737	Intron			XP_016857286.1
XM_017001798.1	1737	Silent Mutation	CCC,CCG	P381P	XP_016857287.1
XM_017001799.1	1737	Silent Mutation	CCC,CCG	P373P	XP_016857288.1
XM_017001800.1	1737	Intron			XP_016857289.1
XM_017001801.1	1737	Silent Mutation	CCC,CCG	P369P	XP_016857290.1
XM_017001802.1	1737	Intron			XP_016857291.1
XM_017001803.1	1737	Intron			XP_016857292.1
XM_017001804.1	1737	Silent Mutation	CCC,CCG	P319P	XP_016857293.1
XM_017001805.1	1737	Silent Mutation	CCC,CCG	P319P	XP_016857294.1

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