Product Details

SNP ID

rs113263671

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:95867111 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATATTCTTCCTCTTGTGATTTTG[A/T]TTTTGTTTCATTGACTAAAGGTAGC

Phenotype

MIM: 603541

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CCDC38 PubMed Links

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	1684	Missense Mutation	ACA,TCA	T553S	NP_872302.2
XM_006719229.2	1684	Missense Mutation	ACA,TCA	T389S	XP_006719292.1
XM_011537883.2	1684	Missense Mutation	ACA,TCA	T553S	XP_011536185.1
XM_011537884.2	1684	Missense Mutation	ACA,TCA	T513S	XP_011536186.1
XM_011537886.2	1684	Missense Mutation	ACA,TCA	T513S	XP_011536188.1
XM_011537887.2	1684	Missense Mutation	ACA,TCA	T513S	XP_011536189.1
XM_011537888.2	1684	Missense Mutation	ACA,TCA	T336S	XP_011536190.1
XM_011537889.1	1684	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	1684	Intron			NP_003086.1

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