Product Details

SNP ID

rs11553732

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:2185284 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GACCCTGCCGAGGGGGCTGTCATGC[A/G]GTTTCCAAGGTGCACATTTTCCACG

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	2123	Silent Mutation	ACC,ACT	T229T	NP_001139782.1
NM_001256945.1	2123	Silent Mutation	ACC,ACT	T188T	NP_001243874.1
NM_001256946.1	2123	Intron			NP_001243875.1
NM_001256947.1	2123	Intron			NP_001243876.1
NM_001282670.1	2123	Intron			NP_001269599.1
NM_001282671.1	2123	Silent Mutation	ACC,ACT	T146T	NP_001269600.1
NM_001282672.1	2123	Silent Mutation	ACC,ACT	T146T	NP_001269601.1
NM_001282673.1	2123	UTR 3			NP_001269602.1
NM_182533.2	2123	Intron			NP_872339.2
XM_006710419.3	2123	Intron			XP_006710482.1
XM_006710421.3	2123	Intron			XP_006710484.1
XM_011540914.2	2123	Intron			XP_011539216.1
XM_011540921.2	2123	Intron			XP_011539223.1
XM_011540922.1	2123	Intron			XP_011539224.1
XM_017000553.1	2123	Intron			XP_016856042.1
XM_017000554.1	2123	UTR 3			XP_016856043.1
XM_017000555.1	2123	Silent Mutation	ACC,ACT	T146T	XP_016856044.1
XM_017000556.1	2123	Silent Mutation	ACC,ACT	T146T	XP_016856045.1
XM_017000557.1	2123	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	2123	UTR 3			NP_001028753.1
NM_001033582.1	2123	UTR 3			NP_001028754.1
NM_001242874.1	2123	UTR 3			NP_001229803.1
NM_002744.4	2123	UTR 3			NP_002735.3
XM_011541773.1	2123	Intron			XP_011540075.1
XM_011541774.1	2123	Intron			XP_011540076.1
XM_011541775.2	2123	Intron			XP_011540077.1
XM_011541776.1	2123	Intron			XP_011540078.1
XM_011541778.1	2123	Intron			XP_011540080.1
XM_017001789.1	2123	Intron			XP_016857278.1
XM_017001790.1	2123	UTR 3			XP_016857279.1
XM_017001791.1	2123	UTR 3			XP_016857280.1
XM_017001792.1	2123	Intron			XP_016857281.1
XM_017001793.1	2123	Intron			XP_016857282.1
XM_017001794.1	2123	Intron			XP_016857283.1
XM_017001795.1	2123	Intron			XP_016857284.1
XM_017001796.1	2123	UTR 3			XP_016857285.1
XM_017001797.1	2123	Intron			XP_016857286.1
XM_017001798.1	2123	UTR 3			XP_016857287.1
XM_017001799.1	2123	UTR 3			XP_016857288.1
XM_017001800.1	2123	Intron			XP_016857289.1
XM_017001801.1	2123	UTR 3			XP_016857290.1
XM_017001802.1	2123	Intron			XP_016857291.1
XM_017001803.1	2123	Intron			XP_016857292.1
XM_017001804.1	2123	UTR 3			XP_016857293.1
XM_017001805.1	2123	UTR 3			XP_016857294.1

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