Product Details

SNP ID

rs11542416

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:130342923 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

GATTCTCCCGGACCCACGTGGAAGC[A/G]GCACTCAAGATGGTAGGAGAATGAG

Phenotype

MIM: 613734 MIM: 612981

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC115 PubMed Links

Gene Details

Gene

CCDC115

Gene Name

coiled-coil domain containing 115

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321118.1	699	Intron			NP_001308047.1
NM_001321119.1	699	Intron			NP_001308048.1
NM_032357.3	699	Intron			NP_115733.2

Gene

IMP4

Gene Name

IMP4 homolog, U3 small nucleolar ribonucleoprotein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320304.1	699	UTR 5			NP_001307233.1
NM_001320305.1	699	UTR 5			NP_001307234.1
NM_001320306.1	699	UTR 5			NP_001307235.1
NM_001320307.1	699	UTR 5			NP_001307236.1
NM_001320309.1	699	UTR 5			NP_001307238.1
NM_001320310.1	699	UTR 5			NP_001307239.1
NM_001320311.1	699	UTR 5			NP_001307240.1
NM_033416.2	699	UTR 5			NP_219484.1

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