Product Details

SNP ID

rs143722232

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49808624 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAGAGGCAGCGCTTCAGTTCCAGG[A/T]GGAGGAGCAGCAGCCTGTGGGAAAG

Phenotype

MIM: 601026 MIM: 610622 MIM: 610197

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

AP2A1 PubMed Links

Gene Details

Gene

AP2A1

Gene Name

adaptor related protein complex 2 alpha 1 subunit

There are no transcripts associated with this gene.

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	1048	Missense Mutation	CAC,CTC	H267L	NP_001165408.1
NM_025129.4	1048	Missense Mutation	CAC,CTC	H303L	NP_079405.2
XM_006723399.3	1048	Missense Mutation	CAC,CTC	H303L	XP_006723462.1
XM_011527339.1	1048	Missense Mutation	CAC,CTC	H303L	XP_011525641.1
XM_011527340.1	1048	Missense Mutation	CAC,CTC	H253L	XP_011525642.1
XM_011527341.2	1048	Missense Mutation	CAC,CTC	H253L	XP_011525643.1
XM_011527342.1	1048	Missense Mutation	CAC,CTC	H246L	XP_011525644.1
XM_011527343.1	1048	Missense Mutation	CAC,CTC	H303L	XP_011525645.1
XM_011527345.1	1048	Missense Mutation	CAC,CTC	H203L	XP_011525647.1
XM_011527346.1	1048	Missense Mutation	CAC,CTC	H203L	XP_011525648.1
XM_011527347.1	1048	Missense Mutation	CAC,CTC	H203L	XP_011525649.1
XM_017027319.1	1048	Missense Mutation	CAC,CTC	H253L	XP_016882808.1
XM_017027320.1	1048	Missense Mutation	CAC,CTC	H303L	XP_016882809.1
XM_017027321.1	1048	Missense Mutation	CAC,CTC	H203L	XP_016882810.1
XM_017027322.1	1048	Missense Mutation	CAC,CTC	H253L	XP_016882811.1
XM_017027323.1	1048	Silent Mutation	CCA,CCT	P267P	XP_016882812.1

Gene

MED25

Gene Name

mediator complex subunit 25

There are no transcripts associated with this gene.

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