Product Details

SNP ID

rs202239622

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41577855 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGTGGATGGTGTCGAAGCTGTCCT[A/G]GTCCAGGCTATCCAGGCAGTAGCGC

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	552	Nonsense Mutation	CAG,TAG	Q207*	NP_002667.2
XM_005261638.4	552	Nonsense Mutation	CAG,TAG	Q110*	XP_005261695.1
XM_011530229.1	552	Nonsense Mutation	CAG,TAG	Q250*	XP_011528531.1
XM_011530230.2	552	Nonsense Mutation	CAG,TAG	Q212*	XP_011528532.1
XM_011530231.2	552	Nonsense Mutation	CAG,TAG	Q137*	XP_011528533.1
XM_011530232.1	552	Nonsense Mutation	CAG,TAG	Q110*	XP_011528534.1

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