Product Details

SNP ID

rs202003978

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:26041758 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTCAAGGTTGTCCCCAGGACCAG[G/T]ATGGAGAAGACGAAGGTGCAGATGG

Phenotype

MIM: 601738 MIM: 609617 MIM: 606131

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

EXTL1 PubMed Links

Gene Details

Gene

EXTL1

Gene Name

exostosin like glycosyltransferase 1

There are no transcripts associated with this gene.

Gene

SLC30A2

Gene Name

solute carrier family 30 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001004434.2	1022	Silent Mutation			NP_001004434.1
NM_032513.4	1022	Silent Mutation			NP_115902.1

Gene

TRIM63

Gene Name

tripartite motif containing 63

There are no transcripts associated with this gene.

View Full Product Details