Product Details

SNP ID

rs185784989

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41577370 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAAAATCTCCCGGCATCGCTGCACC[A/G]TGTCCTGAGGAGACACCACGCTGTG

Phenotype

MIM: 601786

Polymorphism

A/G, 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	670	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	670	Missense Mutation	ACG,ATG	T246M	NP_002667.2
XM_005261638.4	670	Missense Mutation	ACG,ATG	T149M	XP_005261695.1
XM_011530229.1	670	Missense Mutation	ACG,ATG	T289M	XP_011528531.1
XM_011530230.2	670	Missense Mutation	ACG,ATG	T251M	XP_011528532.1
XM_011530231.2	670	Missense Mutation	ACG,ATG	T176M	XP_011528533.1
XM_011530232.1	670	Missense Mutation	ACG,ATG	T149M	XP_011528534.1

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