Product Details

SNP ID

rs192931087

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219210751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATGCCCGGAGCCTTGAGGATGGTG[C/T]GGGCAATGGCGACGCGCTGCTTCTC

Phenotype

MIM: 605452 MIM: 612204 MIM: 613474

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)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005689.2	2533	Missense Mutation	CAC,CGC	H739R	NP_005680.1

Gene

ATG9A

Gene Name

autophagy related 9A

There are no transcripts associated with this gene.

Gene

ZFAND2B

Gene Name

zinc finger AN1-type containing 2B

There are no transcripts associated with this gene.

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