Product Details

SNP ID

rs145165124

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23559821 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCACCGACTGGTGAAAGTGGTCGTA[A/G]GTGAGGCGCAGCTTTAGCCGCAGGG

Phenotype

MIM: 603534 MIM: 611612

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	2258	Silent Mutation	ACC,ACT	T381T	NP_001269403.1
NM_001282475.1	2258	Silent Mutation	ACC,ACT	T690T	NP_001269404.1
NM_003917.4	2258	Silent Mutation	ACC,ACT	T762T	NP_003908.1
XM_005268167.3	2258	Silent Mutation	ACC,ACT	T819T	XP_005268224.1
XM_005268168.4	2258	Silent Mutation	ACC,ACT	T819T	XP_005268225.1
XM_005268169.3	2258	Silent Mutation	ACC,ACT	T819T	XP_005268226.1
XM_005268170.3	2258	Silent Mutation	ACC,ACT	T819T	XP_005268227.1
XM_005268172.3	2258	Silent Mutation	ACC,ACT	T762T	XP_005268229.1
XM_005268173.3	2258	Silent Mutation	ACC,ACT	T762T	XP_005268230.1
XM_005268174.3	2258	Silent Mutation	ACC,ACT	T690T	XP_005268231.1
XM_005268175.3	2258	Silent Mutation	ACC,ACT	T690T	XP_005268232.1
XM_005268177.3	2258	Silent Mutation	ACC,ACT	T633T	XP_005268234.1
XM_005268178.3	2258	Silent Mutation	ACC,ACT	T633T	XP_005268235.1
XM_005268179.3	2258	Silent Mutation	ACC,ACT	T633T	XP_005268236.1
XM_005268180.4	2258	Silent Mutation	ACC,ACT	T617T	XP_005268237.1
XM_005268182.3	2258	Silent Mutation	ACC,ACT	T552T	XP_005268239.1
XM_006720301.3	2258	Silent Mutation	ACC,ACT	T819T	XP_006720364.1
XM_011537283.2	2258	Silent Mutation	ACC,ACT	T784T	XP_011535585.1
XM_011537286.2	2258	Silent Mutation	ACC,ACT	T381T	XP_011535588.1
XM_017021740.1	2258	Intron			XP_016877229.1
XM_017021741.1	2258	Silent Mutation	ACC,ACT	T772T	XP_016877230.1
XM_017021742.1	2258	Silent Mutation	ACC,ACT	T690T	XP_016877231.1
XM_017021743.1	2258	Intron			XP_016877232.1
XM_017021744.1	2258	Intron			XP_016877233.1
XM_017021745.1	2258	Intron			XP_016877234.1
XM_017021746.1	2258	Silent Mutation	ACC,ACT	T381T	XP_016877235.1
XM_017021747.1	2258	Silent Mutation	ACC,ACT	T381T	XP_016877236.1
XM_017021748.1	2258	Silent Mutation	ACC,ACT	T381T	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	2258	Intron			NP_001119811.1
NM_001256062.2	2258	Intron			NP_001242991.1
NM_001256321.2	2258	Intron			NP_001243250.1
NM_001256322.2	2258	Intron			NP_001243251.1
NM_001256323.2	2258	Intron			NP_001243252.1
NM_024328.5	2258	Intron			NP_077304.1

Gene

ZFHX2

Gene Name

zinc finger homeobox 2

There are no transcripts associated with this gene.

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