Product Details

SNP ID

rs1044227

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:42198779 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAACACTCCCATGTGACACTCCAGG[G/T]GACATCCAAGTGCAAGTCTATGTTC

Phenotype

MIM: 164176

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

DEDD2 PubMed Links

Gene Details

Gene

DEDD2

Gene Name

death effector domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270614.1	1785	UTR 3			NP_001257543.1
NM_001270615.1	1785	UTR 3			NP_001257544.1
NM_133328.3	1785	UTR 3			NP_579874.1
XM_011526569.1	1785	UTR 3			XP_011524871.1
XM_011526571.1	1785	UTR 3			XP_011524873.1
XM_011526572.1	1785	UTR 3			XP_011524874.1
XM_017026402.1	1785	UTR 3			XP_016881891.1
XM_017026403.1	1785	UTR 3			XP_016881892.1

Gene

POU2F2

Gene Name

POU class 2 homeobox 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001207025.2	1785	Intron			NP_001193954.1
NM_001207026.1	1785	Intron			NP_001193955.1
NM_001247994.1	1785	Intron			NP_001234923.1
NM_002698.4	1785	Intron			NP_002689.1
XM_005259010.3	1785	Intron			XP_005259067.1
XM_011527040.2	1785	Intron			XP_011525342.1
XM_011527041.2	1785	Intron			XP_011525343.1
XM_011527042.2	1785	Intron			XP_011525344.1
XM_011527043.2	1785	Intron			XP_011525345.2
XM_017026884.1	1785	Intron			XP_016882373.1
XM_017026885.1	1785	Intron			XP_016882374.1
XM_017026886.1	1785	Intron			XP_016882375.1
XM_017026887.1	1785	Intron			XP_016882376.1
XM_017026888.1	1785	Intron			XP_016882377.1
XM_017026889.1	1785	Intron			XP_016882378.1
XM_017026890.1	1785	Intron			XP_016882379.1
XM_017026891.1	1785	Intron			XP_016882380.1
XM_017026892.1	1785	Intron			XP_016882381.1
XM_017026893.1	1785	Intron			XP_016882382.1
XM_017026894.1	1785	Intron			XP_016882383.1
XM_017026895.1	1785	Intron			XP_016882384.1
XM_017026896.1	1785	Intron			XP_016882385.1

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