Product Details

SNP ID

rs11547009

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:197951217 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGGGGTCTCCGGAACCAAAGGGAG[C/T]ACACAGCTCTTCTTAAAATTGAAGG

Phenotype

MIM: 612477 MIM: 609380 MIM: 180468

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

IQCG PubMed Links

Gene Details

Gene

IQCG

Gene Name

IQ motif containing G

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001134435.2	143	Intron			NP_001127907.1
NM_001323027.1	143	Intron			NP_001309956.1
NM_001323028.1	143	Intron			NP_001309957.1
NM_001323029.1	143	Intron			NP_001309958.1
NM_001323030.1	143	Intron			NP_001309959.1
NM_032263.4	143	Intron			NP_115639.1
XM_017007316.1	143	Intron			XP_016862805.1
XM_017007317.1	143	Intron			XP_016862806.1

Gene

LMLN

Gene Name

leishmanolysin like peptidase

There are no transcripts associated with this gene.

Gene

RPL35A

Gene Name

ribosomal protein L35a

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_000996.2	143	Missense Mutation			NP_000987.2
NM_001316311.1	143	Intron			NP_001303240.1

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