Product Details

SNP ID

rs146451548

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:49808587 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTCCTCAGTCACCTTTATCCCCCAA[A/G]GGCTCCACGGTGAAGAGGCAGCGCT

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	1085	Silent Mutation	CCC,CCT	P279P	NP_001165408.1
NM_025129.4	1085	Silent Mutation	CCC,CCT	P315P	NP_079405.2
XM_006723399.3	1085	Silent Mutation	CCC,CCT	P315P	XP_006723462.1
XM_011527339.1	1085	Silent Mutation	CCC,CCT	P315P	XP_011525641.1
XM_011527340.1	1085	Silent Mutation	CCC,CCT	P265P	XP_011525642.1
XM_011527341.2	1085	Silent Mutation	CCC,CCT	P265P	XP_011525643.1
XM_011527342.1	1085	Silent Mutation	CCC,CCT	P258P	XP_011525644.1
XM_011527343.1	1085	Silent Mutation	CCC,CCT	P315P	XP_011525645.1
XM_011527345.1	1085	Silent Mutation	CCC,CCT	P215P	XP_011525647.1
XM_011527346.1	1085	Silent Mutation	CCC,CCT	P215P	XP_011525648.1
XM_011527347.1	1085	Silent Mutation	CCC,CCT	P215P	XP_011525649.1
XM_017027319.1	1085	Silent Mutation	CCC,CCT	P265P	XP_016882808.1
XM_017027320.1	1085	Silent Mutation	CCC,CCT	P315P	XP_016882809.1
XM_017027321.1	1085	Silent Mutation	CCC,CCT	P215P	XP_016882810.1
XM_017027322.1	1085	Silent Mutation	CCC,CCT	P265P	XP_016882811.1
XM_017027323.1	1085	Missense Mutation	CTT,TTT	L280F	XP_016882812.1

Gene

MED25

Gene Name

mediator complex subunit 25

There are no transcripts associated with this gene.

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