Product Details

SNP ID

rs141978531

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:57237538 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCTGACCTCAAAACTTTTAAAAG[A/G]ATATGAAAAACAGGTATTGTATATC

Phenotype

MIM: 604299 MIM: 601802

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

APPL1 PubMed Links

Gene Details

Gene

APPL1

Gene Name

adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_012096.2	400	Missense Mutation	GAA,GGA	E67G	NP_036228.1
XM_011533583.2	400	Missense Mutation	GAA,GGA	E50G	XP_011531885.1

Gene

HESX1

Gene Name

HESX homeobox 1

There are no transcripts associated with this gene.

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