Product Details

SNP ID

rs34987563

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23561601 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCTCATCAGCCTGAGGGCCATCTC[G/T]CTCCACAAGAGGCATTTTTTCCAGG

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	1740	Silent Mutation			NP_001269403.1
NM_001282475.1	1740	Silent Mutation			NP_001269404.1
NM_003917.4	1740	Silent Mutation			NP_003908.1
XM_005268167.3	1740	Nonsense Mutation			XP_005268224.1
XM_005268168.4	1740	Nonsense Mutation			XP_005268225.1
XM_005268169.3	1740	Nonsense Mutation			XP_005268226.1
XM_005268170.3	1740	Nonsense Mutation			XP_005268227.1
XM_005268172.3	1740	Nonsense Mutation			XP_005268229.1
XM_005268173.3	1740	Nonsense Mutation			XP_005268230.1
XM_005268174.3	1740	Nonsense Mutation			XP_005268231.1
XM_005268175.3	1740	Nonsense Mutation			XP_005268232.1
XM_005268177.3	1740	Nonsense Mutation			XP_005268234.1
XM_005268178.3	1740	Nonsense Mutation			XP_005268235.1
XM_005268179.3	1740	Nonsense Mutation			XP_005268236.1
XM_005268180.4	1740	Nonsense Mutation			XP_005268237.1
XM_005268182.3	1740	Nonsense Mutation			XP_005268239.1
XM_006720301.3	1740	Silent Mutation			XP_006720364.1
XM_011537283.2	1740	Nonsense Mutation			XP_011535585.1
XM_011537286.2	1740	Nonsense Mutation			XP_011535588.1
XM_017021740.1	1740	Nonsense Mutation			XP_016877229.1
XM_017021741.1	1740	Nonsense Mutation			XP_016877230.1
XM_017021742.1	1740	Nonsense Mutation			XP_016877231.1
XM_017021743.1	1740	Intron			XP_016877232.1
XM_017021744.1	1740	Intron			XP_016877233.1
XM_017021745.1	1740	Intron			XP_016877234.1
XM_017021746.1	1740	Nonsense Mutation			XP_016877235.1
XM_017021747.1	1740	Nonsense Mutation			XP_016877236.1
XM_017021748.1	1740	Nonsense 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

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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