Product Details

SNP ID

rs187265849

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:35577083 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATGCTGGCCTTAGCTGGTTTGTGC[C/T]CCAGAGCTTGTATATCCTGAACTGT

Phenotype

MIM: 601025 MIM: 601758

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AP2B1 PubMed Links

Gene Details

Gene

AP2B1

Gene Name

adaptor related protein complex 2 beta 1 subunit

There are no transcripts associated with this gene.

Gene

LOC105371743

Gene Name

uncharacterized LOC105371743

There are no transcripts associated with this gene.

Gene

PEX12

Gene Name

peroxisomal biogenesis factor 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000286.2	1251	Missense Mutation	GAG,GGG	E212G	NP_000277.1

Gene

SNORD7

Gene Name

small nucleolar RNA, C/D box 7

There are no transcripts associated with this gene.

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