Product Details

SNP ID

rs202040224

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:42800982 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGGCAGCATCAGCTCCTAGGAGCC[A/G]ACTCTGAATCTGTGGGCAATTTACA

Phenotype

MIM: 601484

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC152 PubMed Links

Gene Details

Gene

CCDC152

Gene Name

coiled-coil domain containing 152

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134848.1	2036	UTR 3			NP_001128320.1

Gene

SEPP1

Gene Name

selenoprotein P, plasma, 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001085486.1	2036	Missense Mutation	TCG,TTG	S295L	NP_001078955.1
NM_001093726.1	2036	Missense Mutation	TCG,TTG	S325L	NP_001087195.1
NM_005410.2	2036	Missense Mutation	TCG,TTG	S295L	NP_005401.3

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