Product Details

SNP ID

rs116730528

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:29329452 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCACTGGTTCTGCAGGGTGCAG[C/T]TAGGAAGTGGGAACAATGGAGTTCC

Phenotype

MIM: 600157 MIM: 602220

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AP1B1 PubMed Links

Gene Details

Gene

AP1B1

Gene Name

adaptor related protein complex 1 beta 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127.3		Intron			NP_001118.3
NM_001166019.1		Intron			NP_001159491.1
NM_145730.2		Intron			NP_663782.2

Gene

MIR3653

Gene Name

microRNA 3653

There are no transcripts associated with this gene.

Gene

RASL10A

Gene Name

RAS like family 10 member A

There are no transcripts associated with this gene.

Gene

SNORD125

Gene Name

small nucleolar RNA, C/D box 125

There are no transcripts associated with this gene.

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