Product Details

SNP ID

rs144086612

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:121416329 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCAGCAGCTACGGAAGGGCCCAA[C/G]ATAGTTTGTAAAGCCTGTGGGCTTT

Phenotype

MIM: 609078 MIM: 608299

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

KDM2B PubMed Links

Gene Details

Gene

KDM2B

Gene Name

lysine demethylase 2B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005366.1	307	Intron			NP_001005366.1
NM_032590.4	307	Intron			NP_115979.3
XM_005253955.3	307	Intron			XP_005254012.1
XM_005253956.3	307	Intron			XP_005254013.1
XM_005253961.4	307	Intron			XP_005254018.1
XM_011538867.2	307	Intron			XP_011537169.1
XM_011538868.2	307	Intron			XP_011537170.1
XM_011538869.2	307	Intron			XP_011537171.1
XM_011538875.2	307	Intron			XP_011537177.1

Gene

RNF34

Gene Name

ring finger protein 34

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001256858.1	307	Intron			NP_001243787.1
NM_025126.3	307	Missense Mutation	AAC,AAG	N59K	NP_079402.2
NM_194271.2	307	Missense Mutation	AAC,AAG	N60K	NP_919247.1

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