Product Details

SNP ID

rs142171410

Assay Type

Functionally tested

NCBI dbSNP Submissions

14

Location

Chr.1:158291278 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATCAGGCACAATAATTTTCCTGC[A/G]TAACTGGTCCAAGGGCAACTTCAGC

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	498	Intron			NP_001755.1
XM_011510119.2	498	Intron			XP_011508421.1
XM_017002784.1	498	Intron			XP_016858273.1
XM_017002785.1	498	Intron			XP_016858274.1
XM_017002786.1	498	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	498	Missense Mutation	CAT,CGT	H69R	NP_001756.2
XM_005245579.4	498	Missense Mutation	CAT,CGT	H69R	XP_005245636.1

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