Product Details

SNP ID

rs200763912

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:41332203 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAAGTTGGCATGGTAGCCCTTGGG[A/C]TCGTGGATCCACTTCCAGCCGAGGT

Phenotype

MIM: 190180

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

CCDC97 PubMed Links

Gene Details

Gene

CCDC97

Gene Name

coiled-coil domain containing 97

There are no transcripts associated with this gene.

Gene

TGFB1

Gene Name

transforming growth factor beta 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_011527242.1	1824	Missense Mutation	GAG,GAT	E314D	XP_011525544.1

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