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SNP ID

rs58036240

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:61412426 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCGATTTCCAGCGCTGACGGCCGC[C/G]CCTGGTTTCCCAGCGAGTCCTCTTG

Phenotype

MIM: 600747

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

C17orf82 PubMed Links

Gene Details

Gene

C17orf82

Gene Name

chromosome 17 open reading frame 82

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203425.2	676	Missense Mutation	CCC,GCC	P151A	NP_982249.2

Gene

TBX2

Gene Name

T-box 2

There are no transcripts associated with this gene.

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