Product Details

SNP ID: rs11555993
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.2:219209002 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: TTGTCAGGAGGAAGAAGACCTAGCT[G/T]TAGCACAAGCACTGTCAGCCAGTGA
Phenotype: MIM: 605452 MIM: 613474
Polymorphism: G/T, Transversion 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	762	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	762	Missense Mutation	GTA,TTA	V228L	NP_001257927.1
NM_001270999.1	762	Missense Mutation	GTA,TTA	V184L	NP_001257928.1
NM_138802.2	762	Missense Mutation	GTA,TTA	V228L	NP_620157.1
XM_006712285.1	762	Intron			XP_006712348.1
XM_006712286.3	762	Intron			XP_006712349.1
XM_017003368.1	762	Missense Mutation	GTA,TTA	V228L	XP_016858857.1

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