Product Details

SNP ID

rs141678080

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49808622 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGAAGAGGCAGCGCTTCAGTTCCA[A/G]GTGGAGGAGCAGCAGCCTGTGGGAA

Phenotype

MIM: 601026 MIM: 610622 MIM: 610197

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

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	1050	Silent Mutation	ATG,GTG	M268V	NP_001165408.1
NM_025129.4	1050	Silent Mutation	ATG,GTG	M304V	NP_079405.2
XM_006723399.3	1050	Silent Mutation	ATG,GTG	M304V	XP_006723462.1
XM_011527339.1	1050	Silent Mutation	ATG,GTG	M304V	XP_011525641.1
XM_011527340.1	1050	Silent Mutation	ATG,GTG	M254V	XP_011525642.1
XM_011527341.2	1050	Silent Mutation	ATG,GTG	M254V	XP_011525643.1
XM_011527342.1	1050	Missense Mutation	ATG,GTG	M247V	XP_011525644.1
XM_011527343.1	1050	Missense Mutation	ATG,GTG	M304V	XP_011525645.1
XM_011527345.1	1050	Missense Mutation	ATG,GTG	M204V	XP_011525647.1
XM_011527346.1	1050	Silent Mutation	ATG,GTG	M204V	XP_011525648.1
XM_011527347.1	1050	Missense Mutation	ATG,GTG	M204V	XP_011525649.1
XM_017027319.1	1050	Missense Mutation	ATG,GTG	M254V	XP_016882808.1
XM_017027320.1	1050	Silent Mutation	ATG,GTG	M304V	XP_016882809.1
XM_017027321.1	1050	Silent Mutation	ATG,GTG	M204V	XP_016882810.1
XM_017027322.1	1050	Missense Mutation	ATG,GTG	M254V	XP_016882811.1
XM_017027323.1	1050	Missense Mutation	CAT,CGT	H268R	XP_016882812.1

Gene

MED25

Gene Name

mediator complex subunit 25

There are no transcripts associated with this gene.

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