Product Details

SNP ID

rs142443316

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:67202668 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAAAAAAAAGATTTCTCCTTAA[C/T]CTCCTACTAAAAACTAAAATTAAGG

Phenotype

MIM: 614888 MIM: 603109

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

AAGAB PubMed Links

Gene Details

Gene

AAGAB

Gene Name

alpha- and gamma-adaptin binding protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001271885.1	1456	UTR 3			NP_001258814.1
NM_001271886.1	1456	UTR 3			NP_001258815.1
NM_024666.4	1456	UTR 3			NP_078942.3
XM_011522020.1	1456	UTR 3			XP_011520322.1

Gene

SMAD3

Gene Name

SMAD family member 3

There are no transcripts associated with this gene.

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