Product Details

SNP ID

hCV60558273

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48070086 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAAATCTATAGTTTTATTAAGACA[A/G]AAACTGACAATGTAGTATGAAGTTT

Phenotype

MIM: 604511 MIM: 163260

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CBX1 PubMed Links

Gene Details

Gene

CBX1

Gene Name

chromobox 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001127228.1	2388	Intron			NP_001120700.1
NM_006807.4	2388	UTR 3			NP_006798.1

Gene

NFE2L1

Gene Name

nuclear factor, erythroid 2 like 1

There are no transcripts associated with this gene.

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