Product Details

SNP ID

rs199999308

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23562012 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTGTGTCATACTCCACAGCCCGCTG[C/G]TGCAGCTCCACGTCCAAGCAGCTCC

Phenotype

MIM: 603534 MIM: 611612

Polymorphism

C/G, 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	1655	Silent Mutation	CAC,CAG	H180Q	NP_001269403.1
NM_001282475.1	1655	Silent Mutation	CAC,CAG	H489Q	NP_001269404.1
NM_003917.4	1655	Silent Mutation	CAC,CAG	H561Q	NP_003908.1
XM_005268167.3	1655	Missense Mutation	CAC,CAG	H618Q	XP_005268224.1
XM_005268168.4	1655	Missense Mutation	CAC,CAG	H618Q	XP_005268225.1
XM_005268169.3	1655	Missense Mutation	CAC,CAG	H618Q	XP_005268226.1
XM_005268170.3	1655	Missense Mutation	CAC,CAG	H618Q	XP_005268227.1
XM_005268172.3	1655	Missense Mutation	CAC,CAG	H561Q	XP_005268229.1
XM_005268173.3	1655	Missense Mutation	CAC,CAG	H561Q	XP_005268230.1
XM_005268174.3	1655	Missense Mutation	CAC,CAG	H489Q	XP_005268231.1
XM_005268175.3	1655	Missense Mutation	CAC,CAG	H489Q	XP_005268232.1
XM_005268177.3	1655	Missense Mutation	CAC,CAG	H432Q	XP_005268234.1
XM_005268178.3	1655	Missense Mutation	CAC,CAG	H432Q	XP_005268235.1
XM_005268179.3	1655	Missense Mutation	CAC,CAG	H432Q	XP_005268236.1
XM_005268180.4	1655	Missense Mutation	CAC,CAG	H416Q	XP_005268237.1
XM_005268182.3	1655	Missense Mutation	CAC,CAG	H351Q	XP_005268239.1
XM_006720301.3	1655	Missense Mutation	CAC,CAG	H618Q	XP_006720364.1
XM_011537283.2	1655	Intron			XP_011535585.1
XM_011537286.2	1655	Missense Mutation	CAC,CAG	H180Q	XP_011535588.1
XM_017021740.1	1655	Missense Mutation	CAC,CAG	H618Q	XP_016877229.1
XM_017021741.1	1655	Missense Mutation	CAC,CAG	H571Q	XP_016877230.1
XM_017021742.1	1655	Missense Mutation	CAC,CAG	H489Q	XP_016877231.1
XM_017021743.1	1655	Intron			XP_016877232.1
XM_017021744.1	1655	Intron			XP_016877233.1
XM_017021745.1	1655	Intron			XP_016877234.1
XM_017021746.1	1655	Missense Mutation	CAC,CAG	H180Q	XP_016877235.1
XM_017021747.1	1655	Missense Mutation	CAC,CAG	H180Q	XP_016877236.1
XM_017021748.1	1655	Missense Mutation	CAC,CAG	H180Q	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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