Product Details

SNP ID

rs3123595

Assay Type

Functionally tested

NCBI dbSNP Submissions

51

Location

Chr.1:2186119 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTGAGCTCCCTGGGAGAGGGGGTCG[T/C]GCCACCTCATGCCTCTGAGTGAGGC

Phenotype

MIM: 615183 MIM: 176982

Polymorphism

T/C, 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	644	Intron			NP_001139782.1
NM_001256945.1	644	Intron			NP_001243874.1
NM_001256946.1	644	Intron			NP_001243875.1
NM_001256947.1	644	Intron			NP_001243876.1
NM_001282670.1	644	Intron			NP_001269599.1
NM_001282671.1	644	Silent Mutation	GCA,GCG	A31A	NP_001269600.1
NM_001282672.1	644	Silent Mutation	GCA,GCG	A31A	NP_001269601.1
NM_001282673.1	644	Intron			NP_001269602.1
NM_182533.2	644	Intron			NP_872339.2
XM_006710419.3	644	Intron			XP_006710482.1
XM_006710421.3	644	Intron			XP_006710484.1
XM_011540914.2	644	Intron			XP_011539216.1
XM_011540921.2	644	Intron			XP_011539223.1
XM_011540922.1	644	Intron			XP_011539224.1
XM_017000553.1	644	Intron			XP_016856042.1
XM_017000554.1	644	Intron			XP_016856043.1
XM_017000555.1	644	Silent Mutation	GCA,GCG	A31A	XP_016856044.1
XM_017000556.1	644	Silent Mutation	GCA,GCG	A31A	XP_016856045.1
XM_017000557.1	644	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	644	Intron			NP_001028753.1
NM_001033582.1	644	Intron			NP_001028754.1
NM_001242874.1	644	Intron			NP_001229803.1
NM_002744.4	644	Intron			NP_002735.3
XM_011541773.1	644	Intron			XP_011540075.1
XM_011541774.1	644	Intron			XP_011540076.1
XM_011541775.2	644	Intron			XP_011540077.1
XM_011541776.1	644	Intron			XP_011540078.1
XM_011541778.1	644	Intron			XP_011540080.1
XM_017001789.1	644	Intron			XP_016857278.1
XM_017001790.1	644	Intron			XP_016857279.1
XM_017001791.1	644	Intron			XP_016857280.1
XM_017001792.1	644	Intron			XP_016857281.1
XM_017001793.1	644	Intron			XP_016857282.1
XM_017001794.1	644	Intron			XP_016857283.1
XM_017001795.1	644	Intron			XP_016857284.1
XM_017001796.1	644	Intron			XP_016857285.1
XM_017001797.1	644	Intron			XP_016857286.1
XM_017001798.1	644	Intron			XP_016857287.1
XM_017001799.1	644	Intron			XP_016857288.1
XM_017001800.1	644	Intron			XP_016857289.1
XM_017001801.1	644	Intron			XP_016857290.1
XM_017001802.1	644	Intron			XP_016857291.1
XM_017001803.1	644	Intron			XP_016857292.1
XM_017001804.1	644	Intron			XP_016857293.1
XM_017001805.1	644	Intron			XP_016857294.1

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