Product Details

SNP ID

rs200231576

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:20670466 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTCCCTGCCGGTCCCCCGCAGAC[A/G]AATCGGCAGCCGAAACAGGCCAGAG

Phenotype

MIM: 604651

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GDF7 PubMed Links

Gene Details

Gene

GDF7

Gene Name

growth differentiation factor 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182828.3	970	Missense Mutation	AAA,GAA	K132E	NP_878248.2

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