Product Details

SNP ID

rs148965195

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:55660211 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCAGAGGCGCTAAAGAGGAGCAC[A/G]GTGGACTGATGTGAGCTTCTCTTCC

Phenotype

MIM: 613478 MIM: 191318

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC106 PubMed Links

Gene Details

Gene

CCDC106

Gene Name

coiled-coil domain containing 106

There are no transcripts associated with this gene.

Gene

U2AF2

Gene Name

U2 small nuclear RNA auxiliary factor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001012478.1	1313	Missense Mutation	AGT,GGT	S74G	NP_001012496.1
NM_007279.2	1313	Missense Mutation	AGT,GGT	S74G	NP_009210.1
XM_006722994.2	1313	UTR 5			XP_006723057.1
XM_011526410.1	1313	UTR 5			XP_011524712.1

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