Product Details

SNP ID

rs142171275

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.14:57274401 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAGAGTCGTGATAGCTGTTCACGC[A/G]TCAATAAAACATCCATTTATGGACT

Phenotype

MIM: 614368 MIM: 604469

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AP5M1 PubMed Links

Gene Details

Gene

AP5M1

Gene Name

adaptor related protein complex 5 mu 1 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018229.3	631	Missense Mutation	ATC,GTC	I78V	NP_060699.3
XM_006720196.2	631	UTR 5			XP_006720259.1
XM_011536940.2	631	Missense Mutation	ATC,GTC	I92V	XP_011535242.1

Gene

EXOC5

Gene Name

exocyst complex component 5

There are no transcripts associated with this gene.

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