Product Details

SNP ID

rs141953431

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:118885177 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCCATCTTGCTGTTGCCAGGCAAC[A/G]AGGGAGGAGTTGGTATTCCTGAGAT

Phenotype

MIM: 604127

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

TBX15 PubMed Links

Gene Details

Gene

TBX15

Gene Name

T-box 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152380.2	1817	Missense Mutation	TCG,TTG	S349L	NP_689593.2
XM_005271161.3	1817	Missense Mutation	TCG,TTG	S488L	XP_005271218.1
XM_005271162.1	1817	Missense Mutation	TCG,TTG	S455L	XP_005271219.1
XM_011542052.2	1817	Missense Mutation	TCG,TTG	S173L	XP_011540354.1

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