Product Details

SNP ID

rs7597191

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:112587665 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTGGGGTGATGCCCTTCTTACCAG[A/G]CCCTATAGGCATTAATTGTTTCTGT

Phenotype

MIM: 616978

Polymorphism

A/G, 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	2651	Intron			NP_001291282.1
NM_001304354.1	2651	Intron			NP_001291283.1
NM_032309.3	2651	Intron			NP_115685.1
XM_005263824.3	2651	UTR 3			XP_005263881.1

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