Product Details

SNP ID

rs201648265

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41573741 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGGGCCATGGCTTCATCACCCCCG[A/C]GAACGGGTCCGAGGACATCTTCGTA

Phenotype

MIM: 601786

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CSDC2 PubMed Links

Gene Details

Gene

CSDC2

Gene Name

cold shock domain containing C2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014460.3	560	Missense Mutation	GAG,GCG	E88A	NP_055275.1

Gene

PMM1

Gene Name

phosphomannomutase 1

There are no transcripts associated with this gene.

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