Product Details

SNP ID

rs200127489

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:108794551 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATTTTCTTTGCAGTTGCCTTGCCA[A/G]CTAATACGACCTCATCGAGACCTCG

Phenotype

MIM: 601181

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CCDC138 PubMed Links

Gene Details

Gene

CCDC138

Gene Name

coiled-coil domain containing 138

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001303105.1	373	Missense Mutation	ACT,GCT	T136A	NP_001290034.1
NM_001303106.1	373	UTR 5			NP_001290035.1
NM_144978.2	373	Missense Mutation	ACT,GCT	T136A	NP_659415.1
XM_006712344.2	373	Missense Mutation	ACT,GCT	T142A	XP_006712407.1
XM_006712345.3	373	Missense Mutation	ACT,GCT	T142A	XP_006712408.1
XM_011510757.2	373	Missense Mutation	ACT,GCT	T142A	XP_011509059.1
XM_011510758.2	373	Missense Mutation	ACT,GCT	T131A	XP_011509060.1
XM_011510760.2	373	Missense Mutation	ACT,GCT	T142A	XP_011509062.1
XM_011510761.2	373	Missense Mutation	ACT,GCT	T142A	XP_011509063.1
XM_011510762.2	373	Missense Mutation	ACT,GCT	T142A	XP_011509064.1
XM_017003492.1	373	Missense Mutation	ACT,GCT	T136A	XP_016858981.1
XM_017003493.1	373	Missense Mutation	ACT,GCT	T131A	XP_016858982.1
XM_017003494.1	373	Missense Mutation	ACT,GCT	T136A	XP_016858983.1
XM_017003495.1	373	Missense Mutation	ACT,GCT	T136A	XP_016858984.1
XM_017003496.1	373	Missense Mutation	ACT,GCT	T142A	XP_016858985.1
XM_017003497.1	373	Missense Mutation	ACT,GCT	T136A	XP_016858986.1
XM_017003498.1	373	Missense Mutation	ACT,GCT	T142A	XP_016858987.1
XM_017003499.1	373	Missense Mutation	ACT,GCT	T136A	XP_016858988.1
XM_017003500.1	373	Missense Mutation	ACT,GCT	T131A	XP_016858989.1
XM_017003501.1	373	UTR 5			XP_016858990.1
XM_017003502.1	373	UTR 5			XP_016858991.1
XM_017003503.1	373	UTR 5			XP_016858992.1
XM_017003504.1	373	UTR 5			XP_016858993.1

Gene

RANBP2

Gene Name

RAN binding protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006267.4	373	Intron			NP_006258.3
XM_005264002.2	373	Intron			XP_005264059.1
XM_005264003.2	373	Intron			XP_005264060.1
XM_005264004.2	373	Intron			XP_005264061.1
XM_005264005.4	373	Intron			XP_005264062.1
XM_005264007.2	373	Intron			XP_005264064.1
XM_011511575.2	373	Intron			XP_011509877.1
XM_011511576.2	373	Intron			XP_011509878.1
XM_011511578.2	373	Intron			XP_011509880.1
XM_017004623.1	373	Intron			XP_016860112.1
XM_017004624.1	373	Intron			XP_016860113.1
XM_017004625.1	373	Intron			XP_016860114.1

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