Product Details

SNP ID

rs144015632

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:2184956 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGAGGATCGACCAGTCAGAGTTC[A/G]AAGGCTTTGAGTATATCAACCCATT

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	1795	UTR 3			NP_001139782.1
NM_001256945.1	1795	UTR 3			NP_001243874.1
NM_001256946.1	1795	Intron			NP_001243875.1
NM_001256947.1	1795	Intron			NP_001243876.1
NM_001282670.1	1795	Intron			NP_001269599.1
NM_001282671.1	1795	UTR 3			NP_001269600.1
NM_001282672.1	1795	UTR 3			NP_001269601.1
NM_001282673.1	1795	UTR 3			NP_001269602.1
NM_182533.2	1795	Intron			NP_872339.2
XM_006710419.3	1795	Intron			XP_006710482.1
XM_006710421.3	1795	Intron			XP_006710484.1
XM_011540914.2	1795	Intron			XP_011539216.1
XM_011540921.2	1795	Intron			XP_011539223.1
XM_011540922.1	1795	Intron			XP_011539224.1
XM_017000553.1	1795	Intron			XP_016856042.1
XM_017000554.1	1795	UTR 3			XP_016856043.1
XM_017000555.1	1795	Intron			XP_016856044.1
XM_017000556.1	1795	Intron			XP_016856045.1
XM_017000557.1	1795	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	1795	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	1795	Missense Mutation	AAA,GAA	K393E	NP_001028753.1
NM_001033582.1	1795	Missense Mutation	AAA,GAA	K393E	NP_001028754.1
NM_001242874.1	1795	Missense Mutation	AAA,GAA	K472E	NP_001229803.1
NM_002744.4	1795	Missense Mutation	AAA,GAA	K576E	NP_002735.3
XM_011541773.1	1795	Intron			XP_011540075.1
XM_011541774.1	1795	Intron			XP_011540076.1
XM_011541775.2	1795	Intron			XP_011540077.1
XM_011541776.1	1795	Intron			XP_011540078.1
XM_011541778.1	1795	Intron			XP_011540080.1
XM_017001789.1	1795	Intron			XP_016857278.1
XM_017001790.1	1795	Missense Mutation	AAA,GAA	K584E	XP_016857279.1
XM_017001791.1	1795	Missense Mutation	AAA,GAA	K494E	XP_016857280.1
XM_017001792.1	1795	Intron			XP_016857281.1
XM_017001793.1	1795	Intron			XP_016857282.1
XM_017001794.1	1795	Intron			XP_016857283.1
XM_017001795.1	1795	Intron			XP_016857284.1
XM_017001796.1	1795	Missense Mutation	AAA,GAA	K401E	XP_016857285.1
XM_017001797.1	1795	Intron			XP_016857286.1
XM_017001798.1	1795	Missense Mutation	AAA,GAA	K401E	XP_016857287.1
XM_017001799.1	1795	Missense Mutation	AAA,GAA	K393E	XP_016857288.1
XM_017001800.1	1795	Intron			XP_016857289.1
XM_017001801.1	1795	Missense Mutation	AAA,GAA	K389E	XP_016857290.1
XM_017001802.1	1795	Intron			XP_016857291.1
XM_017001803.1	1795	Intron			XP_016857292.1
XM_017001804.1	1795	Missense Mutation	AAA,GAA	K339E	XP_016857293.1
XM_017001805.1	1795	Missense Mutation	AAA,GAA	K339E	XP_016857294.1

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