Product Details

SNP ID

rs143776202

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49807312 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTTCCTCAGTCCCCAACACCAGGT[A/G]GCAAGCTCTGGGCAGCTGGGCCTGG

Phenotype

MIM: 601026 MIM: 610622

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AP2A1 PubMed Links

Gene Details

Gene

AP2A1

Gene Name

adaptor related protein complex 2 alpha 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014203.2	1239	Intron			NP_055018.2
NM_130787.2	1239	Intron			NP_570603.2
XM_011526556.2	1239	Intron			XP_011524858.1
XM_011526557.2	1239	Intron			XP_011524859.1

Gene

FUZ

Gene Name

fuzzy planar cell polarity protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001171937.1	1239	Missense Mutation	CAC,TAC	H330Y	NP_001165408.1
NM_025129.4	1239	Missense Mutation	CAC,TAC	H366Y	NP_079405.2
XM_006723399.3	1239	UTR 3			XP_006723462.1
XM_011527339.1	1239	Missense Mutation	CAC,TAC	H367Y	XP_011525641.1
XM_011527340.1	1239	Missense Mutation	CAC,TAC	H317Y	XP_011525642.1
XM_011527341.2	1239	Missense Mutation	CAC,TAC	H317Y	XP_011525643.1
XM_011527342.1	1239	Missense Mutation	CAC,TAC	H310Y	XP_011525644.1
XM_011527343.1	1239	UTR 3			XP_011525645.1
XM_011527345.1	1239	Missense Mutation	CAC,TAC	H267Y	XP_011525647.1
XM_011527346.1	1239	Missense Mutation	CAC,TAC	H267Y	XP_011525648.1
XM_011527347.1	1239	Missense Mutation	CAC,TAC	H267Y	XP_011525649.1
XM_017027319.1	1239	Missense Mutation	CAC,TAC	H316Y	XP_016882808.1
XM_017027320.1	1239	Intron			XP_016882809.1
XM_017027321.1	1239	Missense Mutation	CAC,TAC	H266Y	XP_016882810.1
XM_017027322.1	1239	UTR 3			XP_016882811.1
XM_017027323.1	1239	Intron			XP_016882812.1

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