Product Details

SNP ID

rs59069848

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:214934179 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGTTTGCGACTCCTCCTGCTGTGA[C/G]TGGTACATGATACTCTAGCATGCTG

Phenotype

MIM: 607800

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ABCA12 PubMed Links

Gene Details

Gene

ABCA12

Gene Name

ATP binding cassette subfamily A member 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015657.3	7799	Missense Mutation	CTC,GTC	L2209V	NP_056472.2
NM_173076.2	7799	Missense Mutation	CTC,GTC	L2527V	NP_775099.2
XM_011510951.2	7799	Missense Mutation	CTC,GTC	L2530V	XP_011509253.1

Gene

LOC101928103

Gene Name

uncharacterized LOC101928103

There are no transcripts associated with this gene.

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