Product Details

SNP ID

rs139187778

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:114324099 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACTATCACATCACATCCAAACATG[A/C]ATCCCCAGACAAATGGAATGATAAA

Phenotype

MIM: 616327

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CHAMP1 PubMed Links

Gene Details

Gene

CHAMP1

Gene Name

chromosome alignment maintaining phosphoprotein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164144.1	589	Missense Mutation	GAA,GCA	E86A	NP_001157616.1
NM_001164145.1	589	Missense Mutation	GAA,GCA	E86A	NP_001157617.1
NM_032436.2	589	Missense Mutation	GAA,GCA	E86A	NP_115812.1

Gene

LINC01054

Gene Name

long intergenic non-protein coding RNA 1054

There are no transcripts associated with this gene.

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