Product Details

SNP ID: rs200975836
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.10:73772878 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CACTCGGATTACCCGCTGTCGCTGC[A/G]GTGGCTGCCCGGGACCGCCTATCTG
Phenotype: MIM: 608842 MIM: 616932 MIM: 607185
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CHCHD1 PubMed Links

Gene Details

Gene: CHCHD1
Gene Name: coiled-coil-helix-coiled-coil-helix domain containing 1

There are no transcripts associated with this gene.

Gene: FUT11
Gene Name: fucosyltransferase 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001284194.1	704	Missense Mutation	CAG,CGG	Q182R	NP_001271123.1
NM_173540.2	704	Missense Mutation	CAG,CGG	Q182R	NP_775811.2
XM_006717656.3	704	Missense Mutation	CAG,CGG	Q182R	XP_006717719.1

Gene: SEC24C
Gene Name: SEC24 homolog C, COPII coat complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004922.3	704	Intron			NP_004913.2
NM_198597.2	704	Intron			NP_940999.1
XM_011540380.2	704	Intron			XP_011538682.1
XM_011540381.2	704	Intron			XP_011538683.1
XM_017016967.1	704	Intron			XP_016872456.1
XM_017016968.1	704	Intron			XP_016872457.1

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