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SNP ID

rs138164068

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:158172148 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATACAGTAGACTCCATGTCCTTTC[C/T]TGGAGGTTTTTGAGGACTAATTTTT

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CCDC148 PubMed Links

Gene Details

Gene

CCDC148

Gene Name

coiled-coil domain containing 148

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001301684.1	1990	Missense Mutation	AGA,GGA	R435G	NP_001288613.1
NM_001301685.1	1990	Intron			NP_001288614.1
NM_138803.3	1990	Missense Mutation	AGA,GGA	R581G	NP_620158.3
XM_005246319.3	1990	Missense Mutation	AGA,GGA	R602G	XP_005246376.1
XM_011510638.2	1990	Missense Mutation	AGA,GGA	R615G	XP_011508940.1
XM_017003392.1	1990	Missense Mutation	AGA,GGA	R594G	XP_016858881.1
XM_017003393.1	1990	Missense Mutation	AGA,GGA	R580G	XP_016858882.1
XM_017003394.1	1990	Missense Mutation	AGA,GGA	R541G	XP_016858883.1
XM_017003395.1	1990	Missense Mutation	AGA,GGA	R508G	XP_016858884.1
XM_017003396.1	1990	Missense Mutation	AGA,GGA	R495G	XP_016858885.1
XM_017003397.1	1990	Missense Mutation	AGA,GGA	R435G	XP_016858886.1
XM_017003398.1	1990	Missense Mutation	AGA,GGA	R368G	XP_016858887.1

Gene

CCDC148-AS1

Gene Name

CCDC148 antisense RNA 1

There are no transcripts associated with this gene.

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