Product Details

SNP ID: rs200424213
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.12:122981148 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CGCCAGCCCGCGGCGCCATGGCTCA[C/G]GTCGGCTCCCGCAAGCGCTCGAGGA
Phenotype: MIM: 605453 MIM: 607668 MIM: 608920
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: ABCB9 PubMed Links

Gene Details

Gene: ABCB9
Gene Name: ATP binding cassette subfamily B member 9

There are no transcripts associated with this gene.

Gene: ARL6IP4
Gene Name: ADP ribosylation factor like GTPase 6 interacting protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002251.2	706	Missense Mutation	CAC,CAG	H187Q	NP_001002251.2
NM_001002252.2	706	Missense Mutation	CAC,CAG	H187Q	NP_001002252.2
NM_001278378.1	706	Missense Mutation	CAC,CAG	H187Q	NP_001265307.1
NM_001278379.1	706	Missense Mutation	CAC,CAG	H67Q	NP_001265308.1
NM_001278380.1	706	Missense Mutation	CAC,CAG	H3Q	NP_001265309.1
NM_016638.3	706	Missense Mutation	CAC,CAG	H187Q	NP_057722.3
NM_018694.3	706	Missense Mutation	CAC,CAG	H187Q	NP_061164.3

Gene: OGFOD2
Gene Name: 2-oxoglutarate and iron dependent oxygenase domain containing 2

There are no transcripts associated with this gene.

Gene: PITPNM2
Gene Name: phosphatidylinositol transfer protein membrane associated 2

There are no transcripts associated with this gene.

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