Product Details

SNP ID

rs142584479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:2277636 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCACGGCCCGGCAGGTGGTAATG[A/G]ACCATGCCTTGGTGCTCATCTTCCA

Phenotype

MIM: 601615 MIM: 606447

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABCA3 PubMed Links

Gene Details

Gene

ABCA3

Gene Name

ATP binding cassette subfamily A member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001089.2	5656	Silent Mutation	GTC,GTT	V1648V	NP_001080.2

Gene

LOC106660606

Gene Name

uncharacterized LOC106660606

There are no transcripts associated with this gene.

Gene

MIR3677

Gene Name

microRNA 3677

There are no transcripts associated with this gene.

Gene

MIR4717

Gene Name

microRNA 4717

There are no transcripts associated with this gene.

Gene

MIR940

Gene Name

microRNA 940

There are no transcripts associated with this gene.

Gene

RNPS1

Gene Name

RNA binding protein with serine rich domain 1

There are no transcripts associated with this gene.

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