Product Details

SNP ID

rs201978477

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:41577402 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAGGAGACACCACGCTGTGGCCAAC[A/G]GTCCGGGGGTCGGCAAAGATCTCAA

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	638	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	638	Silent Mutation	ACC,ACT	T235T	NP_002667.2
XM_005261638.4	638	Silent Mutation	ACC,ACT	T138T	XP_005261695.1
XM_011530229.1	638	Silent Mutation	ACC,ACT	T278T	XP_011528531.1
XM_011530230.2	638	Silent Mutation	ACC,ACT	T240T	XP_011528532.1
XM_011530231.2	638	Silent Mutation	ACC,ACT	T165T	XP_011528533.1
XM_011530232.1	638	Silent Mutation	ACC,ACT	T138T	XP_011528534.1

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