Product Details

SNP ID

rs17218767

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:148021284 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCTCCAGCCCTGAGCCCTGAGAGGG[G/A]GATTGAGCCTGAGAGAGGAGAAGGA

Phenotype

MIM: 611472 MIM: 603056

Polymorphism

G/A, Transition substitution

Allele Nomenclature

Literature Links

MBD5 PubMed Links

Gene Details

Gene

MBD5

Gene Name

methyl-CpG binding domain protein 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018328.4		Intron			NP_060798.2
XM_011511470.2		Intron			XP_011509772.1
XM_011511472.2		Intron			XP_011509774.1
XM_017004482.1		Intron			XP_016859971.1
XM_017004483.1		Intron			XP_016859972.1
XM_017004484.1		Intron			XP_016859973.1
XM_017004485.1		Intron			XP_016859974.1

Gene

ORC4

Gene Name

origin recognition complex subunit 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190879.2		Intron			NP_001177808.1
NM_001190881.2		Intron			NP_001177810.1
NM_001190882.2		Intron			NP_001177811.1
NM_002552.4		Intron			NP_002543.2
NM_181741.3		Intron			NP_859525.1
NM_181742.3		Intron			NP_859526.1
XM_011511255.2		Intron			XP_011509557.1
XM_017004226.1		Intron			XP_016859715.1
XM_017004227.1		Intron			XP_016859716.1

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