Product Details

SNP ID
rs199630469
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:49808602 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCCCCCAAGGGCTCCACGGTGAA[A/G]AGGCAGCGCTTCAGTTCCAGGTGGA
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 1070 Silent Mutation CTC,CTT L274L NP_001165408.1
NM_025129.4 1070 Silent Mutation CTC,CTT L310L NP_079405.2
XM_006723399.3 1070 Silent Mutation CTC,CTT L310L XP_006723462.1
XM_011527339.1 1070 Silent Mutation CTC,CTT L310L XP_011525641.1
XM_011527340.1 1070 Silent Mutation CTC,CTT L260L XP_011525642.1
XM_011527341.2 1070 Silent Mutation CTC,CTT L260L XP_011525643.1
XM_011527342.1 1070 Silent Mutation CTC,CTT L253L XP_011525644.1
XM_011527343.1 1070 Silent Mutation CTC,CTT L310L XP_011525645.1
XM_011527345.1 1070 Silent Mutation CTC,CTT L210L XP_011525647.1
XM_011527346.1 1070 Silent Mutation CTC,CTT L210L XP_011525648.1
XM_011527347.1 1070 Silent Mutation CTC,CTT L210L XP_011525649.1
XM_017027319.1 1070 Silent Mutation CTC,CTT L260L XP_016882808.1
XM_017027320.1 1070 Silent Mutation CTC,CTT L310L XP_016882809.1
XM_017027321.1 1070 Silent Mutation CTC,CTT L210L XP_016882810.1
XM_017027322.1 1070 Silent Mutation CTC,CTT L260L XP_016882811.1
XM_017027323.1 1070 Missense Mutation CTT,TTT L275F XP_016882812.1
Gene
MED25
Gene Name
mediator complex subunit 25
There are no transcripts associated with this gene.

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