Product Details

SNP ID

rs200306063

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:112585979 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCCATCCTGTCCCACAGGCAGG[C/T]GGCCCTAGAGGTCACCGCTCGCTAC

Phenotype

MIM: 616978 MIM: 602000

Polymorphism

C/T, Transition substitution

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	1050	UTR 5			NP_001291282.1
NM_001304354.1	1050	UTR 5			NP_001291283.1
NM_032309.3	1050	Missense Mutation	GCG,GTG	A3V	NP_115685.1
XM_005263824.3	1050	Missense Mutation	GCG,GTG	A3V	XP_005263881.1

Gene

POLR1B

Gene Name

RNA polymerase I subunit B

There are no transcripts associated with this gene.

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