Product Details

SNP ID

rs145240391

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219209271 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTCTCTTTGCTCTAGGCCCAGAGC[C/T]GCAGCTCGAAGCCGTCCAACTGCAG

Phenotype

MIM: 605452 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	819	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	819	Missense Mutation	CGC,TGC	R247C	NP_001257927.1
NM_001270999.1	819	Missense Mutation	CGC,TGC	R203C	NP_001257928.1
NM_138802.2	819	Missense Mutation	CGC,TGC	R247C	NP_620157.1
XM_006712285.1	819	Silent Mutation	GCC,GCT	A222A	XP_006712348.1
XM_006712286.3	819	Silent Mutation	GCC,GCT	A222A	XP_006712349.1
XM_017003368.1	819	Missense Mutation	CGC,TGC	R247C	XP_016858857.1

View Full Product Details