Product Details

SNP ID

rs140890348

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:2184669 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAACTTTGACACACAGTTCACCAG[C/T]GAGCCCGTGCAGCTGACCCCAGACG

Phenotype

MIM: 615183 MIM: 176982

Polymorphism

C/T, 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	1731	UTR 3			NP_001139782.1
NM_001256945.1	1731	UTR 3			NP_001243874.1
NM_001256946.1	1731	Intron			NP_001243875.1
NM_001256947.1	1731	Intron			NP_001243876.1
NM_001282670.1	1731	Intron			NP_001269599.1
NM_001282671.1	1731	UTR 3			NP_001269600.1
NM_001282672.1	1731	UTR 3			NP_001269601.1
NM_001282673.1	1731	UTR 3			NP_001269602.1
NM_182533.2	1731	Intron			NP_872339.2
XM_006710419.3	1731	Intron			XP_006710482.1
XM_006710421.3	1731	Intron			XP_006710484.1
XM_011540914.2	1731	Intron			XP_011539216.1
XM_011540921.2	1731	Intron			XP_011539223.1
XM_011540922.1	1731	Intron			XP_011539224.1
XM_017000553.1	1731	Intron			XP_016856042.1
XM_017000554.1	1731	UTR 3			XP_016856043.1
XM_017000555.1	1731	Intron			XP_016856044.1
XM_017000556.1	1731	Intron			XP_016856045.1
XM_017000557.1	1731	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	1731	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	1731	Silent Mutation	AGC,AGT	S371S	NP_001028753.1
NM_001033582.1	1731	Silent Mutation	AGC,AGT	S371S	NP_001028754.1
NM_001242874.1	1731	Silent Mutation	AGC,AGT	S450S	NP_001229803.1
NM_002744.4	1731	Silent Mutation	AGC,AGT	S554S	NP_002735.3
XM_011541773.1	1731	Intron			XP_011540075.1
XM_011541774.1	1731	Intron			XP_011540076.1
XM_011541775.2	1731	Intron			XP_011540077.1
XM_011541776.1	1731	Intron			XP_011540078.1
XM_011541778.1	1731	Intron			XP_011540080.1
XM_017001789.1	1731	Intron			XP_016857278.1
XM_017001790.1	1731	Silent Mutation	AGC,AGT	S562S	XP_016857279.1
XM_017001791.1	1731	Silent Mutation	AGC,AGT	S472S	XP_016857280.1
XM_017001792.1	1731	Intron			XP_016857281.1
XM_017001793.1	1731	Intron			XP_016857282.1
XM_017001794.1	1731	Intron			XP_016857283.1
XM_017001795.1	1731	Intron			XP_016857284.1
XM_017001796.1	1731	Silent Mutation	AGC,AGT	S379S	XP_016857285.1
XM_017001797.1	1731	Intron			XP_016857286.1
XM_017001798.1	1731	Silent Mutation	AGC,AGT	S379S	XP_016857287.1
XM_017001799.1	1731	Silent Mutation	AGC,AGT	S371S	XP_016857288.1
XM_017001800.1	1731	Intron			XP_016857289.1
XM_017001801.1	1731	Silent Mutation	AGC,AGT	S367S	XP_016857290.1
XM_017001802.1	1731	Intron			XP_016857291.1
XM_017001803.1	1731	Intron			XP_016857292.1
XM_017001804.1	1731	Silent Mutation	AGC,AGT	S317S	XP_016857293.1
XM_017001805.1	1731	Silent Mutation	AGC,AGT	S317S	XP_016857294.1

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