Product Details

SNP ID

rs141174485

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:50282700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCGGTTTGTCATGGCTGTGCGCA[C/T]ATTGCGCTCCTGCTCAAACAGCTCG

Phenotype

MIM: 609150 MIM: 156535

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CXXC1 PubMed Links

Gene Details

Gene

CXXC1

Gene Name

CXXC finger protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001101654.1	2342	Missense Mutation	ATG,GTG	M626V	NP_001095124.1
NM_014593.3	2342	Missense Mutation	ATG,GTG	M622V	NP_055408.2
XM_011525940.2	2342	Missense Mutation	ATG,GTG	M626V	XP_011524242.1
XM_011525941.2	2342	Missense Mutation	ATG,GTG	M501V	XP_011524243.1
XM_017025718.1	2342	Missense Mutation	ATG,GTG	M622V	XP_016881207.1
XM_017025719.1	2342	Missense Mutation	ATG,GTG	M497V	XP_016881208.1

Gene

MBD1

Gene Name

methyl-CpG binding domain protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204136.1	2342	Intron			NP_001191065.1
NM_001204137.1	2342	Intron			NP_001191066.1
NM_001204138.1	2342	Intron			NP_001191067.1
NM_001204139.1	2342	Intron			NP_001191068.1
NM_001204140.1	2342	Intron			NP_001191069.1
NM_001204141.1	2342	Intron			NP_001191070.1
NM_001204142.1	2342	Intron			NP_001191071.1
NM_001204143.1	2342	Intron			NP_001191072.1
NM_001204151.2	2342	Intron			NP_001191080.1
NM_001323942.1	2342	Intron			NP_001310871.1
NM_001323947.1	2342	Intron			NP_001310876.1
NM_001323949.1	2342	Intron			NP_001310878.1
NM_001323950.1	2342	Intron			NP_001310879.1
NM_001323951.1	2342	Intron			NP_001310880.1
NM_001323952.1	2342	Intron			NP_001310881.1
NM_001323953.1	2342	Intron			NP_001310882.1
NM_001323954.1	2342	Intron			NP_001310883.1
NM_002384.2	2342	Intron			NP_002375.1
NM_015844.2	2342	Intron			NP_056669.2
NM_015845.3	2342	Intron			NP_056670.2
NM_015846.3	2342	Intron			NP_056671.2
NM_015847.3	2342	Intron			NP_056723.2
XM_005258271.2	2342	Intron			XP_005258328.1
XM_006722456.2	2342	Intron			XP_006722519.1
XM_011525991.1	2342	Intron			XP_011524293.1
XM_011525993.2	2342	Intron			XP_011524295.1
XM_011525994.2	2342	Intron			XP_011524296.1
XM_011525998.2	2342	Intron			XP_011524300.1
XM_011525999.1	2342	Intron			XP_011524301.1
XM_011526001.1	2342	Intron			XP_011524303.1
XM_011526002.1	2342	Intron			XP_011524304.1
XM_011526003.2	2342	Intron			XP_011524305.1
XM_011526006.1	2342	Intron			XP_011524308.1
XM_011526007.1	2342	Intron			XP_011524309.1
XM_017025751.1	2342	Intron			XP_016881240.1
XM_017025752.1	2342	Intron			XP_016881241.1
XM_017025753.1	2342	Intron			XP_016881242.1
XM_017025754.1	2342	Intron			XP_016881243.1
XM_017025755.1	2342	Intron			XP_016881244.1
XM_017025756.1	2342	Intron			XP_016881245.1
XM_017025757.1	2342	Intron			XP_016881246.1
XM_017025758.1	2342	Intron			XP_016881247.1
XM_017025759.1	2342	Intron			XP_016881248.1
XM_017025760.1	2342	Intron			XP_016881249.1
XM_017025761.1	2342	Intron			XP_016881250.1
XM_017025762.1	2342	Intron			XP_016881251.1
XM_017025763.1	2342	Intron			XP_016881252.1
XM_017025764.1	2342	Intron			XP_016881253.1
XM_017025765.1	2342	Intron			XP_016881254.1
XM_017025766.1	2342	Intron			XP_016881255.1
XM_017025767.1	2342	Intron			XP_016881256.1
XM_017025768.1	2342	Intron			XP_016881257.1
XM_017025769.1	2342	Intron			XP_016881258.1
XM_017025770.1	2342	Intron			XP_016881259.1
XM_017025771.1	2342	Intron			XP_016881260.1
XM_017025772.1	2342	Intron			XP_016881261.1
XM_017025773.1	2342	Intron			XP_016881262.1
XM_017025774.1	2342	Intron			XP_016881263.1
XM_017025775.1	2342	Intron			XP_016881264.1
XM_017025776.1	2342	Intron			XP_016881265.1
XM_017025777.1	2342	Intron			XP_016881266.1

View Full Product Details