Product Details

SNP ID

rs148027038

Assay Type

Functionally tested

NCBI dbSNP Submissions

1

Location

Chr.1:169468164 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGCATCTACCACAATTAGAGTGA[A/G]CAGCGTCTGCAGTGCCAGGGCAATG

Phenotype

MIM: 603941

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC181 PubMed Links

Gene Details

Gene

CCDC181

Gene Name

coiled-coil domain containing 181

There are no transcripts associated with this gene.

Gene

SLC19A2

Gene Name

solute carrier family 19 member 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001319667.1	913	Missense Mutation	CTC,TTC	L237F	NP_001306596.1
NM_006996.2	913	Missense Mutation	CTC,TTC	L438F	NP_008927.1

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