Product Details

SNP ID

rs4880189

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:137028813 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGAGGCCCCAGGAACGCTCGCCGTG[A/G]GCGGAGCAGGCAGGGGACCGAGGCG

Phenotype

MIM: 600047 MIM: 602030

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ABCA2 PubMed Links

Gene Details

Gene

ABCA2

Gene Name

ATP binding cassette subfamily A member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001606.4	110	Intron			NP_001597.2
NM_212533.2	110	Silent Mutation	GCC,GCT	A20A	NP_997698.1
XM_006716996.3	110	Intron			XP_006717059.1

Gene

C9orf139

Gene Name

chromosome 9 open reading frame 139

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_207511.2	110	Intron			NP_997394.1
XM_017014717.1	110	Intron			XP_016870206.1

Gene

FUT7

Gene Name

fucosyltransferase 7

There are no transcripts associated with this gene.

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