Product Details

SNP ID

rs202093233

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.X:120626959 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTGGGTTTTACAAGGATAATACAGT[A/G]TACTCGAAAGCTCTTACTGAGCTCC

Phenotype

MIM: 300611 MIM: 300587

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C1GALT1C1 PubMed Links

Gene Details

Gene

C1GALT1C1

Gene Name

C1GALT1 specific chaperone 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001011551.2	447	Missense Mutation	CAC,TAC	H70Y	NP_001011551.1
NM_152692.4	447	Missense Mutation	CAC,TAC	H70Y	NP_689905.1

Gene

MCTS1

Gene Name

MCTS1, re-initiation and release factor

There are no transcripts associated with this gene.

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