Product Details

SNP ID

rs147618397

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:18814233 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAAAGTTCAAAGTGAGTGGCAAG[G/T]TTCTGCTTAGCTGGAAGCTGGAAAG

Phenotype

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

C20orf78 PubMed Links

Gene Details

Gene

C20orf78

Gene Name

chromosome 20 open reading frame 78

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242671.2	508	Intron			NP_001229600.1
NM_001302818.1	508	Intron			NP_001289747.1

Gene

SCP2D1

Gene Name

SCP2 sterol binding domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178483.2	508	Missense Mutation	GTT,TTT	V140F	NP_848578.1

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