Product Details

SNP ID: rs202142737
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:219209039 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTGTCAGCCAGTGAGGCAGAATACC[A/G]GCGGCAGCAGGTATGAGGCTGGGCT
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	799	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	799	Missense Mutation	CAG,CGG	Q240R	NP_001257927.1
NM_001270999.1	799	Missense Mutation	CAG,CGG	Q196R	NP_001257928.1
NM_138802.2	799	Missense Mutation	CAG,CGG	Q240R	NP_620157.1
XM_006712285.1	799	Intron			XP_006712348.1
XM_006712286.3	799	Intron			XP_006712349.1
XM_017003368.1	799	Missense Mutation	CAG,CGG	Q240R	XP_016858857.1

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