Product Details

SNP ID

rs147900073

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49808621 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTGAAGAGGCAGCGCTTCAGTTCC[A/C]GGTGGAGGAGCAGCAGCCTGTGGGA

Phenotype

MIM: 601026 MIM: 610622 MIM: 610197

Polymorphism

A/C, 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	1051	Missense Mutation	CGG,CTG	R268L	NP_001165408.1
NM_025129.4	1051	Missense Mutation	CGG,CTG	R304L	NP_079405.2
XM_006723399.3	1051	Missense Mutation	CGG,CTG	R304L	XP_006723462.1
XM_011527339.1	1051	Missense Mutation	CGG,CTG	R304L	XP_011525641.1
XM_011527340.1	1051	Missense Mutation	CGG,CTG	R254L	XP_011525642.1
XM_011527341.2	1051	Missense Mutation	CGG,CTG	R254L	XP_011525643.1
XM_011527342.1	1051	Missense Mutation	CGG,CTG	R247L	XP_011525644.1
XM_011527343.1	1051	Missense Mutation	CGG,CTG	R304L	XP_011525645.1
XM_011527345.1	1051	Missense Mutation	CGG,CTG	R204L	XP_011525647.1
XM_011527346.1	1051	Missense Mutation	CGG,CTG	R204L	XP_011525648.1
XM_011527347.1	1051	Missense Mutation	CGG,CTG	R204L	XP_011525649.1
XM_017027319.1	1051	Missense Mutation	CGG,CTG	R254L	XP_016882808.1
XM_017027320.1	1051	Missense Mutation	CGG,CTG	R304L	XP_016882809.1
XM_017027321.1	1051	Missense Mutation	CGG,CTG	R204L	XP_016882810.1
XM_017027322.1	1051	Missense Mutation	CGG,CTG	R254L	XP_016882811.1
XM_017027323.1	1051	Silent Mutation	CCG,CCT	P268P	XP_016882812.1

Gene

MED25

Gene Name

mediator complex subunit 25

There are no transcripts associated with this gene.

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