Product Details

SNP ID

rs79198703

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:55748883 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAAGCAAGTGCTACACAGCTGGT[C/T]CCGCCAGCCACAGAGCAACTGGGGC

Phenotype

MIM: 603936 MIM: 610049

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GDF11 PubMed Links

Gene Details

Gene

GDF11

Gene Name

growth differentiation factor 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
XM_006719194.3	782	Missense Mutation	TCC,TTC	S248F	XP_006719257.1

Gene

SARNP

Gene Name

SAP domain containing ribonucleoprotein

There are no transcripts associated with this gene.

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