Product Details

SNP ID

rs201843079

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219221253 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCCACTCTCATCACTCTCCCGG[C/T]GGTGCCATACATGCCGCTCAGGTTC

Phenotype

MIM: 605452 MIM: 612204

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ABCB6 PubMed Links

Gene Details

Gene

ABCB6

Gene Name

ATP binding cassette subfamily B member 6 (Langereis blood group)

There are no transcripts associated with this gene.

Gene

ANKZF1

Gene Name

ankyrin repeat and zinc finger domain containing 1

There are no transcripts associated with this gene.

Gene

ATG9A

Gene Name

autophagy related 9A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001077198.2	2378	Missense Mutation	CAC,CGC	H732R	NP_001070666.1
NM_024085.4	2378	Missense Mutation	CAC,CGC	H732R	NP_076990.4

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