Product Details

SNP ID

rs201946781

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:37483260 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACAGAGAGCAGCATGTTCTTCCGGT[G/T]CTCTTGCCGAAGAAACTTCAGTTCC

Phenotype

MIM: 616189

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC167 PubMed Links

Gene Details

Gene

CCDC167

Gene Name

coiled-coil domain containing 167

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_138493.2	281	Missense Mutation	AAC,CAC	N74H	NP_612502.1

Gene

CMTR1

Gene Name

cap methyltransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015050.2	281	Intron			NP_055865.1
XM_005248955.3	281	Intron			XP_005249012.1

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