Product Details

SNP ID

rs114534381

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:158291362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGTTTCTACCTCTTTGGATTAACTC[A/G]GGAGATTCAAGACCATGCAAGTCAA

Phenotype

MIM: 188360 MIM: 188340

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CD1B PubMed Links

Gene Details

Gene

CD1B

Gene Name

CD1b molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001764.2	582	Intron			NP_001755.1
XM_011510119.2	582	Intron			XP_011508421.1
XM_017002784.1	582	Intron			XP_016858273.1
XM_017002785.1	582	Intron			XP_016858274.1
XM_017002786.1	582	Intron			XP_016858275.1

Gene

CD1C

Gene Name

CD1c molecule

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001765.2	582	Missense Mutation	CAG,CGG	Q97R	NP_001756.2
XM_005245579.4	582	Missense Mutation	CAG,CGG	Q97R	XP_005245636.1

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