Product Details

SNP ID

rs150005152

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41577355 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGCTGTCTCTGGGAAGAAAATCTCC[C/T]GGCATCGCTGCACCGTGTCCTGAGG

Phenotype

MIM: 601786

Polymorphism

C/T, Transition 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	685	Intron			NP_055275.1

Gene

PMM1

Gene Name

phosphomannomutase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002676.2	685	Missense Mutation			NP_002667.2
XM_005261638.4	685	Missense Mutation			XP_005261695.1
XM_011530229.1	685	Missense Mutation			XP_011528531.1
XM_011530230.2	685	Missense Mutation			XP_011528532.1
XM_011530231.2	685	Missense Mutation			XP_011528533.1
XM_011530232.1	685	Missense Mutation			XP_011528534.1

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