Product Details

SNP ID

rs35523637

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23560022 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTGTTCCCACTGGGGGCCTGCAG[C/T]TGCAGCTGGAGACTCTGAACACAGG

Phenotype

MIM: 603534 MIM: 611612

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

AP1G2 PubMed Links

Additional Information

For this assay, SNP(s) [rs75443528] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	2144	Silent Mutation			NP_001269403.1
NM_001282475.1	2144	Silent Mutation			NP_001269404.1
NM_003917.4	2144	Silent Mutation			NP_003908.1
XM_005268167.3	2144	Silent Mutation			XP_005268224.1
XM_005268168.4	2144	Silent Mutation			XP_005268225.1
XM_005268169.3	2144	Silent Mutation			XP_005268226.1
XM_005268170.3	2144	Silent Mutation			XP_005268227.1
XM_005268172.3	2144	Silent Mutation			XP_005268229.1
XM_005268173.3	2144	Silent Mutation			XP_005268230.1
XM_005268174.3	2144	Silent Mutation			XP_005268231.1
XM_005268175.3	2144	Silent Mutation			XP_005268232.1
XM_005268177.3	2144	Silent Mutation			XP_005268234.1
XM_005268178.3	2144	Silent Mutation			XP_005268235.1
XM_005268179.3	2144	Silent Mutation			XP_005268236.1
XM_005268180.4	2144	Silent Mutation			XP_005268237.1
XM_005268182.3	2144	Silent Mutation			XP_005268239.1
XM_006720301.3	2144	Silent Mutation			XP_006720364.1
XM_011537283.2	2144	Silent Mutation			XP_011535585.1
XM_011537286.2	2144	Silent Mutation			XP_011535588.1
XM_017021740.1	2144	Intron			XP_016877229.1
XM_017021741.1	2144	Silent Mutation			XP_016877230.1
XM_017021742.1	2144	Silent Mutation			XP_016877231.1
XM_017021743.1	2144	Intron			XP_016877232.1
XM_017021744.1	2144	Intron			XP_016877233.1
XM_017021745.1	2144	Intron			XP_016877234.1
XM_017021746.1	2144	Silent Mutation			XP_016877235.1
XM_017021747.1	2144	Silent Mutation			XP_016877236.1
XM_017021748.1	2144	Silent Mutation			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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001126339.3	2144	Intron			NP_001119811.1
NM_001256062.2	2144	Intron			NP_001242991.1
NM_001256321.2	2144	Intron			NP_001243250.1
NM_001256322.2	2144	Intron			NP_001243251.1
NM_001256323.2	2144	Intron			NP_001243252.1
NM_024328.5	2144	Intron			NP_077304.1

Gene

ZFHX2

Gene Name

zinc finger homeobox 2

There are no transcripts associated with this gene.

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