Product Details

SNP ID

rs121909356

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.8:96144951 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGCCGCCGCCGGCGGCCGGGCGAG[T/G]GCAGCCAAGGCCTGGCATCCGGGGC

Phenotype

MIM: 601147

Polymorphism

T/G, Transversion substitution

Allele Nomenclature

Literature Links

GDF6 PubMed Links

Gene Details

Gene

GDF6

Gene Name

growth differentiation factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001557.2	1080	Missense Mutation	CAC,CCC	H327P	NP_001001557.1

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