Product Details

SNP ID

rs11552449

Assay Type

Functionally tested

NCBI dbSNP Submissions

64

Location

Chr.1:113905767 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

AATTACAGCCCACCTCTTGCATCGT[C/T]ACCTACAGGTATGGGGCTGGAGTCG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001253852.2	475	Intron			NP_001240781.1
NM_001253853.2	475	Intron			NP_001240782.1
NM_001308312.1	475	Intron			NP_001295241.1
NM_006594.4	475	Intron			NP_006585.2
XM_011540523.2	475	Intron			XP_011538825.1
XM_011540524.2	475	Intron			XP_011538826.1
XM_011540525.2	475	Intron			XP_011538827.1
XM_011540528.2	475	Intron			XP_011538830.1
XM_017000088.1	475	Intron			XP_016855577.1
XM_017000089.1	475	Intron			XP_016855578.1
XM_017000090.1	475	Intron			XP_016855579.1
XM_017000091.1	475	Intron			XP_016855580.1
XM_017000092.1	475	Intron			XP_016855581.1
XM_017000093.1	475	Intron			XP_016855582.1

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	475	UTR 5			NP_001306875.1
NM_001319947.1	475	UTR 5			NP_001306876.1
NM_022836.3	475	Missense Mutation	CAC,TAC	H61Y	NP_073747.1

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