Product Details

SNP ID

rs200227163

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41578857 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAAACTCTGTTTTCAGGGCTTCCA[C/T]GAACTTCTCCCGGATCTTCTCTTTC

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

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	432	Missense Mutation	ATG,GTG	M167V	NP_002667.2
XM_005261638.4	432	Missense Mutation	ATG,GTG	M70V	XP_005261695.1
XM_011530229.1	432	Missense Mutation	ATG,GTG	M210V	XP_011528531.1
XM_011530230.2	432	Missense Mutation	ATG,GTG	M172V	XP_011528532.1
XM_011530231.2	432	Missense Mutation	ATG,GTG	M97V	XP_011528533.1
XM_011530232.1	432	Missense Mutation	ATG,GTG	M70V	XP_011528534.1

View Full Product Details