Product Details

SNP ID

rs147254552

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48639033 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGATCTGAGATGGAGGATTCTGGCT[C/G]AGGAGTCTCAGGGAGTGCATCTGCA

Phenotype

MIM: 604644 MIM: 124097 MIM: 607092

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CA11 PubMed Links

Gene Details

Gene

CA11

Gene Name

carbonic anhydrase 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001217.4	1496	Silent Mutation	CTC,CTG	L272L	NP_001208.2

Gene

DBP

Gene Name

D-box binding PAR bZIP transcription factor

There are no transcripts associated with this gene.

Gene

SEC1P

Gene Name

secretory blood group 1, pseudogene

There are no transcripts associated with this gene.

Gene

SPHK2

Gene Name

sphingosine kinase 2

There are no transcripts associated with this gene.

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