Product Details

SNP ID

rs11850998

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23560477 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AGGTTTGAGAGAACATGTTTGTTCA[A/T]TCATTCAACAAAAATTGAGTAAACA

Phenotype

MIM: 603534 MIM: 611612

Polymorphism

A/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		Intron			NP_001269403.1
NM_001282475.1		Intron			NP_001269404.1
NM_003917.4		Intron			NP_003908.1
XM_005268167.3		Intron			XP_005268224.1
XM_005268168.4		Intron			XP_005268225.1
XM_005268169.3		Intron			XP_005268226.1
XM_005268170.3		Intron			XP_005268227.1
XM_005268172.3		Intron			XP_005268229.1
XM_005268173.3		Intron			XP_005268230.1
XM_005268174.3		Intron			XP_005268231.1
XM_005268175.3		Intron			XP_005268232.1
XM_005268177.3		Intron			XP_005268234.1
XM_005268178.3		Intron			XP_005268235.1
XM_005268179.3		Intron			XP_005268236.1
XM_005268180.4		Intron			XP_005268237.1
XM_005268182.3		Intron			XP_005268239.1
XM_006720301.3		Intron			XP_006720364.1
XM_011537283.2		Intron			XP_011535585.1
XM_011537286.2		Intron			XP_011535588.1
XM_017021740.1		Intron			XP_016877229.1
XM_017021741.1		Intron			XP_016877230.1
XM_017021742.1		Intron			XP_016877231.1
XM_017021743.1		Intron			XP_016877232.1
XM_017021744.1		Intron			XP_016877233.1
XM_017021745.1		Intron			XP_016877234.1
XM_017021746.1		Intron			XP_016877235.1
XM_017021747.1		Intron			XP_016877236.1
XM_017021748.1		Intron			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		Intron			NP_001119811.1
NM_001256062.2		Intron			NP_001242991.1
NM_001256321.2		Intron			NP_001243250.1
NM_001256322.2		Intron			NP_001243251.1
NM_001256323.2		Intron			NP_001243252.1
NM_024328.5		Intron			NP_077304.1

Gene

ZFHX2

Gene Name

zinc finger homeobox 2

There are no transcripts associated with this gene.

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