Product Details

SNP ID

rs2733579

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:14125335 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGCTAGGCCCGCATCTCCCTCTG[C/T]TCGCCGTGTCTGTGCCTTCGCCAGC

Phenotype

MIM: 611077 MIM: 612048

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHCHD4 PubMed Links

Gene Details

Gene

CHCHD4

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098502.1		Intron			NP_001091972.1
NM_144636.2		Intron			NP_653237.1

Gene

TMEM43

Gene Name

transmembrane protein 43

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024334.2		Intron			NP_077310.1
XM_017007176.1		Intron			XP_016862665.1

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