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SNP ID: rs139974923
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:219209269 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CCCCTCTCTTTGCTCTAGGCCCAGA[A/G]CCGCAGCTCGAAGCCGTCCAACTGC
Phenotype: MIM: 605452 MIM: 613474
Polymorphism: A/G, 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	817	Intron			NP_005680.1

Gene: ZFAND2B
Gene Name: zinc finger AN1-type containing 2B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270998.1	817	Missense Mutation	AAC,AGC	N246S	NP_001257927.1
NM_001270999.1	817	Missense Mutation	AAC,AGC	N202S	NP_001257928.1
NM_138802.2	817	Missense Mutation	AAC,AGC	N246S	NP_620157.1
XM_006712285.1	817	Missense Mutation	ACC,GCC	T222A	XP_006712348.1
XM_006712286.3	817	Missense Mutation	ACC,GCC	T222A	XP_006712349.1
XM_017003368.1	817	Missense Mutation	AAC,AGC	N246S	XP_016858857.1

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