Product Details

SNP ID

rs140353032

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:42401123 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTGTTTGAGACCCAAGGAGCCCT[C/T]GCAGCAGCCAATCCGCTTCTCACTC

Phenotype

MIM: 609542

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ATP8A1 PubMed Links

Gene Details

Gene

ATP8A1

Gene Name

ATPase phospholipid transporting 8A1

There are no transcripts associated with this gene.

Gene

LOC105374428

Gene Name

uncharacterized LOC105374428

There are no transcripts associated with this gene.

Gene

SHISA3

Gene Name

shisa family member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080505.1	607	Missense Mutation	TCG,TTG	S130L	NP_001073974.1

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