Product Details

SNP ID

rs145209422

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41577386 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGCTGCACCGTGTCCTGAGGAGACA[C/T]CACGCTGTGGCCAACAGTCCGGGGG

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	654	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	654	Missense Mutation	ATG,GTG	M241V	NP_002667.2
XM_005261638.4	654	Missense Mutation	ATG,GTG	M144V	XP_005261695.1
XM_011530229.1	654	Missense Mutation	ATG,GTG	M284V	XP_011528531.1
XM_011530230.2	654	Missense Mutation	ATG,GTG	M246V	XP_011528532.1
XM_011530231.2	654	Missense Mutation	ATG,GTG	M171V	XP_011528533.1
XM_011530232.1	654	Missense Mutation	ATG,GTG	M144V	XP_011528534.1

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