Product Details

SNP ID

rs139730427

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.12:95867170 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTACCAGATGGAGGTTTTGAATGA[A/C]AGACAAGTCGTCTTCCCAACTGAAA

Phenotype

MIM: 603541

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

CCDC38 PubMed Links

Additional Information

For this assay, SNP(s) [rs7960706] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

CCDC38

Gene Name

coiled-coil domain containing 38

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182496.2	1625	Missense Mutation	TGT,TTT	C533F	NP_872302.2
XM_006719229.2	1625	Missense Mutation	TGT,TTT	C369F	XP_006719292.1
XM_011537883.2	1625	Missense Mutation	TGT,TTT	C533F	XP_011536185.1
XM_011537884.2	1625	Missense Mutation	TGT,TTT	C493F	XP_011536186.1
XM_011537886.2	1625	Missense Mutation	TGT,TTT	C493F	XP_011536188.1
XM_011537887.2	1625	Missense Mutation	TGT,TTT	C493F	XP_011536189.1
XM_011537888.2	1625	Missense Mutation	TGT,TTT	C316F	XP_011536190.1
XM_011537889.1	1625	Intron			XP_011536191.1

Gene

LOC105369921

Gene Name

uncharacterized LOC105369921

There are no transcripts associated with this gene.

Gene

SNRPF

Gene Name

small nuclear ribonucleoprotein polypeptide F

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003095.2	1625	Intron			NP_003086.1

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