Product Details

SNP ID

rs147548953

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:15013751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATGAAGAGGAAAATGGAGAGAGATA[C/T]GGAAAAATCAGAGGTCCTACTCAAG

Phenotype

MIM: 600637

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC105 PubMed Links

Gene Details

Gene

CCDC105

Gene Name

coiled-coil domain containing 105

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173482.2	749	Missense Mutation	ACG,ATG	T217M	NP_775753.2

Gene

SLC1A6

Gene Name

solute carrier family 1 member 6

There are no transcripts associated with this gene.

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