Product Details

SNP ID

rs138485817

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:57269575 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAACAAAGTCGGTTGATAGCTGCTT[C/G]CAGTAGACCAAACCAAGCCAGTAGT

Phenotype

MIM: 604299

Polymorphism

C/G, Transversion 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	2218	Missense Mutation	TCC,TGC	S673C	NP_036228.1
XM_011533583.2	2218	Missense Mutation	TCC,TGC	S656C	XP_011531885.1

Gene

ASB14

Gene Name

ankyrin repeat and SOCS box containing 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142733.2	2218	UTR 3			NP_001136205.2
NM_130387.5	2218	UTR 3			NP_569058.1
XM_017005736.1	2218	Intron			XP_016861225.1
XM_017005737.1	2218	Intron			XP_016861226.1

Gene

LOC105377102

Gene Name

uncharacterized LOC105377102

There are no transcripts associated with this gene.

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