Product Details

SNP ID

rs139179843

Assay Type

Functionally tested

NCBI dbSNP Submissions

13

Location

Chr.1:2229406 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGCCTGGCGCTGGGCCTGGAGCTC[A/G]GCGAGCGCAGCGTCCGCGTGTACCA

Phenotype

MIM: 164780

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SKI PubMed Links

Gene Details

Gene

SKI

Gene Name

SKI proto-oncogene

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003036.3	682	Missense Mutation	AGC,GGC	S214G	NP_003027.1
XM_005244775.3	682	Missense Mutation	AGC,GGC	S214G	XP_005244832.1
XM_005244776.4	682	Intron			XP_005244833.1
XM_017002128.1	682	Intron			XP_016857617.1

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