Product Details

SNP ID: rs185629225
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:104114828 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: GGCCGAAAAGGTCTGAGCCAATAAT[A/G]GAGAGGGCAGCCAGCCCTGTGGCAT
Phenotype: MIM: 300941
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: LOC286437 PubMed Links

Gene Details

Gene: LOC286437
Gene Name: uncharacterized LOC286437

There are no transcripts associated with this gene.

Gene: SLC25A53
Gene Name: solute carrier family 25 member 53

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012755.4	1923	Intron			NP_001012773.2
XM_005262129.4	1923	Intron			XP_005262186.1
XM_011530952.2	1923	Intron			XP_011529254.1
XM_011530953.2	1923	Intron			XP_011529255.1
XM_017029514.1	1923	Intron			XP_016885003.1
XM_017029515.1	1923	Intron			XP_016885004.1
XM_017029516.1	1923	Intron			XP_016885005.1

Gene: ZCCHC18
Gene Name: zinc finger CCHC-type containing 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143978.2	1923	Missense Mutation	ATA,ATG	I239M	NP_001137450.1
XM_011531012.2	1923	Missense Mutation	ATA,ATG	I239M	XP_011529314.1

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