Product Details

SNP ID

rs201194192

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:20785097 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGCAGCGCAGCCGCGCTGTTCGG[C/G]TTCTGCACGTCGATCCAGCCGGCCC

Phenotype

MIM: 608306

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

SP8 PubMed Links

Gene Details

Gene

SP8

Gene Name

Sp8 transcription factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182700.5	907	Missense Mutation	AAC,AAG	N240K	NP_874359.2
NM_198956.3	907	Missense Mutation	AAC,AAG	N222K	NP_945194.1

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