Product Details

SNP ID

rs138692749

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:23571235 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGCCTGTGCGCCTGCCCCCCCC[A/C]ACTCCTCAGGCCAAGCTTTGGGGCT

Phenotype

MIM: 603534

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

AP1G2 PubMed Links

Gene Details

Gene

AP1G2

Gene Name

adaptor related protein complex 1 gamma 2 subunit

There are no transcripts associated with this gene.

Gene

JPH4

Gene Name

junctophilin 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001146028.1	2414	Missense Mutation			NP_001139500.1
NM_032452.2	2414	Missense Mutation			NP_115828.2

Gene

LOC102724814

Gene Name

uncharacterized LOC102724814

There are no transcripts associated with this gene.

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