Product Details

SNP ID

rs116760479

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.22:23580094 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGGCGCAGCAGGCCATGGGTTACCA[C/T]GGCCAGACCCAGCAGCAGCAGGGGC

Phenotype

MIM: 146770

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DRICH1 PubMed Links

Gene Details

Gene

DRICH1

Gene Name

aspartate rich 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016449.3	455	Intron			NP_057533.2
XM_011530206.1	455	Intron			XP_011528508.1
XM_011530207.2	455	Intron			XP_011528509.1
XM_011530208.2	455	Intron			XP_011528510.1
XM_011530209.2	455	Intron			XP_011528511.1
XM_011530210.2	455	Intron			XP_011528512.1
XM_017028813.1	455	Intron			XP_016884302.1

Gene

IGLL1

Gene Name

immunoglobulin lambda like polypeptide 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020070.3	455	Missense Mutation	ATG,GTG	M33V	NP_064455.1
NM_152855.2	455	Missense Mutation	ATG,GTG	M33V	NP_690594.1
XM_011530169.2	455	Missense Mutation	ATG,GTG	M33V	XP_011528471.1

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