Product Details

SNP ID

rs146990069

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41577904 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTGTCCCAGCCCTCGGGGAAGAC[A/G]TCAAAGCTGATCATGCCTCCTGTGG

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

There are no transcripts associated with this gene.

Gene

PMM1

Gene Name

phosphomannomutase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002676.2	503	Silent Mutation	GAC,GAT	D190D	NP_002667.2
XM_005261638.4	503	Silent Mutation	GAC,GAT	D93D	XP_005261695.1
XM_011530229.1	503	Silent Mutation	GAC,GAT	D233D	XP_011528531.1
XM_011530230.2	503	Silent Mutation	GAC,GAT	D195D	XP_011528532.1
XM_011530231.2	503	Silent Mutation	GAC,GAT	D120D	XP_011528533.1
XM_011530232.1	503	Silent Mutation	GAC,GAT	D93D	XP_011528534.1

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