Product Details

SNP ID

rs202055717

Assay Type

Functionally tested

NCBI dbSNP Submissions

8

Location

Chr.1:27967018 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTCTGGGCCTGGCTCTGCGGCTT[T/G]TGTACTACCACTGGCTGCACCCTAG

Phenotype

MIM: 601655

Polymorphism

T/G, Transversion 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	1614	Missense Mutation	GTG,TTG	V336L	NP_060523.2
XM_011541679.2	1614	Missense Mutation	GTG,TTG	V390L	XP_011539981.1
XM_011541680.2	1614	Missense Mutation	GTG,TTG	V354L	XP_011539982.1

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