Product Details

SNP ID

rs144807486

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23569679 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGGAATGCCAGGCTGAGGTCCAG[A/G]AGGGCCACGGCTCCCACCACCAGGG

Phenotype

MIM: 603534

Polymorphism

A/G, Transition 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	2760	Intron			NP_001269403.1
NM_001282475.1	2760	Intron			NP_001269404.1
NM_003917.4	2760	Intron			NP_003908.1
XM_005268167.3	2760	Intron			XP_005268224.1
XM_005268168.4	2760	Intron			XP_005268225.1
XM_005268169.3	2760	Intron			XP_005268226.1
XM_005268170.3	2760	Intron			XP_005268227.1
XM_005268172.3	2760	Intron			XP_005268229.1
XM_005268173.3	2760	Intron			XP_005268230.1
XM_005268174.3	2760	Intron			XP_005268231.1
XM_005268175.3	2760	Intron			XP_005268232.1
XM_005268177.3	2760	Intron			XP_005268234.1
XM_005268178.3	2760	Intron			XP_005268235.1
XM_005268179.3	2760	Intron			XP_005268236.1
XM_005268180.4	2760	Intron			XP_005268237.1
XM_005268182.3	2760	Intron			XP_005268239.1
XM_006720301.3	2760	Intron			XP_006720364.1
XM_011537283.2	2760	Intron			XP_011535585.1
XM_011537286.2	2760	Intron			XP_011535588.1
XM_017021740.1	2760	Intron			XP_016877229.1
XM_017021741.1	2760	Intron			XP_016877230.1
XM_017021742.1	2760	Intron			XP_016877231.1
XM_017021743.1	2760	Intron			XP_016877232.1
XM_017021744.1	2760	Intron			XP_016877233.1
XM_017021745.1	2760	Intron			XP_016877234.1
XM_017021746.1	2760	Intron			XP_016877235.1
XM_017021747.1	2760	Intron			XP_016877236.1
XM_017021748.1	2760	Intron			XP_016877237.1

Gene

JPH4

Gene Name

junctophilin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146028.1	2760	Silent Mutation	CTC,CTT	L614L	NP_001139500.1
NM_032452.2	2760	Silent Mutation	CTC,CTT	L614L	NP_115828.2

Gene

LOC102724814

Gene Name

uncharacterized LOC102724814

There are no transcripts associated with this gene.

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