Product Details

SNP ID

rs143447121

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:50282859 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAACCGCACAGAAACCTACCACAC[A/G]CACGCGCTCCAAGTCCACTTCCGCA

Phenotype

MIM: 609150 MIM: 156535

Polymorphism

A/G, 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	2297	Missense Mutation	CGT,TGT	R611C	NP_001095124.1
NM_014593.3	2297	Missense Mutation	CGT,TGT	R607C	NP_055408.2
XM_011525940.2	2297	Missense Mutation	CGT,TGT	R611C	XP_011524242.1
XM_011525941.2	2297	Missense Mutation	CGT,TGT	R486C	XP_011524243.1
XM_017025718.1	2297	Missense Mutation	CGT,TGT	R607C	XP_016881207.1
XM_017025719.1	2297	Missense Mutation	CGT,TGT	R482C	XP_016881208.1

Gene

MBD1

Gene Name

methyl-CpG binding domain protein 1

There are no transcripts associated with this gene.

View Full Product Details