Product Details

SNP ID

rs138336580

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:168281236 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTCAGATCATCCTGGAGGATGCAC[C/T]TCTCTGGCAGAGATTCAAGGAAGTC

Phenotype

MIM: 604614

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

TBX19 PubMed Links

Gene Details

Gene

TBX19

Gene Name

T-box 19

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005149.2	197	Missense Mutation	CCT,CTT	P49L	NP_005140.1

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