Product Details

SNP ID

rs138629546

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:107774076 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGTCTGTGGTATTGATTGGCTG[G/T]TCCAGTACTTCTATCTGATTGTTGT

Phenotype

MIM: 606872 MIM: 126650

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CBLL1 PubMed Links

Gene Details

Gene

CBLL1

Gene Name

Cbl proto-oncogene like 1

There are no transcripts associated with this gene.

Gene

SLC26A3

Gene Name

solute carrier family 26 member 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000111.2	2062	Missense Mutation	GAA,GAC	E617D	NP_000102.1
XM_011515867.2	2062	Missense Mutation	GAA,GAC	E617D	XP_011514169.1

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