Product Details

SNP ID

rs200009297

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:50283282 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACCTTACTTTGGGGTCCCGTGAGT[A/G]CTCGGGGCACAGCACCTGGAGCCGC

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	2132	Missense Mutation	CAC,TAC	H556Y	NP_001095124.1
NM_014593.3	2132	Missense Mutation	CAC,TAC	H552Y	NP_055408.2
XM_011525940.2	2132	Missense Mutation	CAC,TAC	H556Y	XP_011524242.1
XM_011525941.2	2132	Missense Mutation	CAC,TAC	H431Y	XP_011524243.1
XM_017025718.1	2132	Missense Mutation	CAC,TAC	H552Y	XP_016881207.1
XM_017025719.1	2132	Missense Mutation	CAC,TAC	H427Y	XP_016881208.1

Gene

MBD1

Gene Name

methyl-CpG binding domain protein 1

There are no transcripts associated with this gene.

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