Product Details

SNP ID

rs116022586

Assay Type

Functionally tested

NCBI dbSNP Submissions

7

Location

Chr.1:158291396 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGACCATGCAAGTCAAGATTACTC[A/G]AAATGTAAGTTCAATCATCTAAATT

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	616	Intron			NP_001755.1
XM_011510119.2	616	Intron			XP_011508421.1
XM_017002784.1	616	Intron			XP_016858273.1
XM_017002785.1	616	Intron			XP_016858274.1
XM_017002786.1	616	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	616	Silent Mutation	TCA,TCG	S108S	NP_001756.2
XM_005245579.4	616	Silent Mutation	TCA,TCG	S108S	XP_005245636.1

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