Product Details

SNP ID

rs201383821

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41577366 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGAAGAAAATCTCCCGGCATCGCTG[C/T]ACCGTGTCCTGAGGAGACACCACGC

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	674	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	674	Silent Mutation	GTA,GTG	V247V	NP_002667.2
XM_005261638.4	674	Silent Mutation	GTA,GTG	V150V	XP_005261695.1
XM_011530229.1	674	Silent Mutation	GTA,GTG	V290V	XP_011528531.1
XM_011530230.2	674	Silent Mutation	GTA,GTG	V252V	XP_011528532.1
XM_011530231.2	674	Silent Mutation	GTA,GTG	V177V	XP_011528533.1
XM_011530232.1	674	Silent Mutation	GTA,GTG	V150V	XP_011528534.1

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