Product Details

SNP ID

rs182024458

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:2185391 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGGAATAAAATGTTCCGATGATG[A/T]GGAAGCTCCTCTGATGCCTTTTTTC

Phenotype

MIM: 615183 MIM: 176982

Polymorphism

A/T, 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	2230	Missense Mutation	ACA,TCA	T194S	NP_001139782.1
NM_001256945.1	2230	Missense Mutation	ACA,TCA	T153S	NP_001243874.1
NM_001256946.1	2230	Intron			NP_001243875.1
NM_001256947.1	2230	Intron			NP_001243876.1
NM_001282670.1	2230	Intron			NP_001269599.1
NM_001282671.1	2230	Missense Mutation	ACA,TCA	T111S	NP_001269600.1
NM_001282672.1	2230	Missense Mutation	ACA,TCA	T111S	NP_001269601.1
NM_001282673.1	2230	UTR 3			NP_001269602.1
NM_182533.2	2230	Intron			NP_872339.2
XM_006710419.3	2230	Intron			XP_006710482.1
XM_006710421.3	2230	Intron			XP_006710484.1
XM_011540914.2	2230	Intron			XP_011539216.1
XM_011540921.2	2230	Intron			XP_011539223.1
XM_011540922.1	2230	Intron			XP_011539224.1
XM_017000553.1	2230	Intron			XP_016856042.1
XM_017000554.1	2230	UTR 3			XP_016856043.1
XM_017000555.1	2230	Missense Mutation	ACA,TCA	T111S	XP_016856044.1
XM_017000556.1	2230	Missense Mutation	ACA,TCA	T111S	XP_016856045.1
XM_017000557.1	2230	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	2230	UTR 3			NP_001028753.1
NM_001033582.1	2230	UTR 3			NP_001028754.1
NM_001242874.1	2230	UTR 3			NP_001229803.1
NM_002744.4	2230	UTR 3			NP_002735.3
XM_011541773.1	2230	Intron			XP_011540075.1
XM_011541774.1	2230	Intron			XP_011540076.1
XM_011541775.2	2230	Intron			XP_011540077.1
XM_011541776.1	2230	Intron			XP_011540078.1
XM_011541778.1	2230	Intron			XP_011540080.1
XM_017001789.1	2230	Intron			XP_016857278.1
XM_017001790.1	2230	UTR 3			XP_016857279.1
XM_017001791.1	2230	UTR 3			XP_016857280.1
XM_017001792.1	2230	Intron			XP_016857281.1
XM_017001793.1	2230	Intron			XP_016857282.1
XM_017001794.1	2230	Intron			XP_016857283.1
XM_017001795.1	2230	Intron			XP_016857284.1
XM_017001796.1	2230	UTR 3			XP_016857285.1
XM_017001797.1	2230	Intron			XP_016857286.1
XM_017001798.1	2230	UTR 3			XP_016857287.1
XM_017001799.1	2230	UTR 3			XP_016857288.1
XM_017001800.1	2230	Intron			XP_016857289.1
XM_017001801.1	2230	UTR 3			XP_016857290.1
XM_017001802.1	2230	Intron			XP_016857291.1
XM_017001803.1	2230	Intron			XP_016857292.1
XM_017001804.1	2230	UTR 3			XP_016857293.1
XM_017001805.1	2230	UTR 3			XP_016857294.1

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