Product Details

SNP ID
rs147216742
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:23561558 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCTGCTTCTGAAAGCTGGGCTGCT[G/T]CTTTGCTTTCCTTTGCTTCCTCATC
Phenotype
MIM: 603534 MIM: 611612
Polymorphism
G/T, Transversion Substitution
Allele Nomenclature
Literature Links
AP1G2 PubMed Links

Gene Details

Gene
AP1G2
Gene Name
adaptor related protein complex 1 gamma 2 subunit
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001282474.1 1783 Missense Mutation GAA,GCA E223A NP_001269403.1
NM_001282475.1 1783 Missense Mutation GAA,GCA E532A NP_001269404.1
NM_003917.4 1783 Missense Mutation GAA,GCA E604A NP_003908.1
XM_005268167.3 1783 Missense Mutation GAA,GCA E661A XP_005268224.1
XM_005268168.4 1783 Missense Mutation GAA,GCA E661A XP_005268225.1
XM_005268169.3 1783 Missense Mutation GAA,GCA E661A XP_005268226.1
XM_005268170.3 1783 Missense Mutation GAA,GCA E661A XP_005268227.1
XM_005268172.3 1783 Missense Mutation GAA,GCA E604A XP_005268229.1
XM_005268173.3 1783 Missense Mutation GAA,GCA E604A XP_005268230.1
XM_005268174.3 1783 Missense Mutation GAA,GCA E532A XP_005268231.1
XM_005268175.3 1783 Missense Mutation GAA,GCA E532A XP_005268232.1
XM_005268177.3 1783 Missense Mutation GAA,GCA E475A XP_005268234.1
XM_005268178.3 1783 Missense Mutation GAA,GCA E475A XP_005268235.1
XM_005268179.3 1783 Missense Mutation GAA,GCA E475A XP_005268236.1
XM_005268180.4 1783 Missense Mutation GAA,GCA E459A XP_005268237.1
XM_005268182.3 1783 Missense Mutation GAA,GCA E394A XP_005268239.1
XM_006720301.3 1783 Missense Mutation GAA,GCA E661A XP_006720364.1
XM_011537283.2 1783 Missense Mutation GAA,GCA E626A XP_011535585.1
XM_011537286.2 1783 Missense Mutation GAA,GCA E223A XP_011535588.1
XM_017021740.1 1783 Missense Mutation GAA,GCA E661A XP_016877229.1
XM_017021741.1 1783 Missense Mutation GAA,GCA E614A XP_016877230.1
XM_017021742.1 1783 Missense Mutation GAA,GCA E532A XP_016877231.1
XM_017021743.1 1783 Intron XP_016877232.1
XM_017021744.1 1783 Intron XP_016877233.1
XM_017021745.1 1783 Intron XP_016877234.1
XM_017021746.1 1783 Missense Mutation GAA,GCA E223A XP_016877235.1
XM_017021747.1 1783 Missense Mutation GAA,GCA E223A XP_016877236.1
XM_017021748.1 1783 Missense Mutation GAA,GCA E223A XP_016877237.1
Gene
JPH4
Gene Name
junctophilin 4
There are no transcripts associated with this gene.

Gene
LOC102724814
Gene Name
uncharacterized LOC102724814
There are no transcripts associated with this gene.

Gene
THTPA
Gene Name
thiamine triphosphatase
There are no transcripts associated with this gene.

Gene
ZFHX2
Gene Name
zinc finger homeobox 2
There are no transcripts associated with this gene.

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