Product Details

SNP ID

rs116769142

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:113906864 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGAAGGGCAGATTGCTTGGGAATC[C/T]CCATTACAGCTTCTGCTCCCGGTGG

Phenotype

MIM: 607245 MIM: 609683

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AP4B1 PubMed Links

Gene Details

Gene

AP4B1

Gene Name

adaptor related protein complex 4 beta 1 subunit

There are no transcripts associated with this gene.

Gene

AP4B1-AS1

Gene Name

AP4B1 antisense RNA 1

There are no transcripts associated with this gene.

Gene

DCLRE1B

Gene Name

DNA cross-link repair 1B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319946.1		Intron			NP_001306875.1
NM_001319947.1		Intron			NP_001306876.1
NM_022836.3		Intron			NP_073747.1

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