Product Details

SNP ID

rs144777583

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:149995269 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACTGTGGATGGCTTGACTGACCA[C/T]CACGCTGCAGCAATCATGTCGATGG

Phenotype

MIM: 606718

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

HMGXB3 PubMed Links

Gene Details

Gene

HMGXB3

Gene Name

HMG-box containing 3

There are no transcripts associated with this gene.

Gene

SLC26A2

Gene Name

solute carrier family 26 member 2

There are no transcripts associated with this gene.

Gene

TIGD6

Gene Name

tigger transposable element derived 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243253.1	1855	Nonsense Mutation	TGA,TGG	*360W	NP_001230182.1
NM_030953.3	1855	Nonsense Mutation	TGA,TGG	*360W	NP_112215.1

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