Product Details

SNP ID: rs11545361
Assay Type: Functionally tested
NCBI dbSNP Submissions: 1
Location: Chr.1:27966926 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ATTCTCCTGGTGGCCACCTGGGTGA[C/T]TCATAGCTCCTGGCTGCCCAGCGGG
Phenotype: MIM: 601655
Polymorphism: C/T, Transition substitution
Allele Nomenclature
Literature Links: EYA3 PubMed Links

Gene Details

Gene: EYA3
Gene Name: EYA transcriptional coactivator and phosphatase 3

There are no transcripts associated with this gene.

Gene: SMPDL3B
Gene Name: sphingomyelin phosphodiesterase acid like 3B

There are no transcripts associated with this gene.

Gene: XKR8
Gene Name: XK related 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_018053.3	1522	Missense Mutation	ACT,ATT	T305I	NP_060523.2
XM_011541679.2	1522	Missense Mutation	ACT,ATT	T359I	XP_011539981.1
XM_011541680.2	1522	Missense Mutation	ACT,ATT	T323I	XP_011539982.1

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