Product Details

SNP ID

rs3833479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:112584094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGCGCTCGCATGAACCTGGGTGCC[A/-]GGGGGATTATCAGCGTCTGCGCAAG

Phenotype

MIM: 616978 MIM: 602000

Polymorphism

A/-, Insertion/deletion

Allele Nomenclature

Literature Links

CHCHD5 PubMed Links

Gene Details

Gene

CHCHD5

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304353.1	489	Intron			NP_001291282.1
NM_001304354.1	489	Intron			NP_001291283.1
NM_032309.3	489	Intron			NP_115685.1
XM_005263824.3	489	UTR 5			XP_005263881.1

Gene

POLR1B

Gene Name

RNA polymerase I subunit B

There are no transcripts associated with this gene.

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