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SNP ID: rs2277616
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.17:44899824 on Build GRCh38
Set Membership: HapMap
Context Sequence [VIC/FAM]: GGGGACCAAGGCCGGGACTGCTGGG[A/G]TGAAGGTCCGGGAGGCTGAGTAAGG
Phenotype: MIM: 614677 MIM: 603892 MIM: 137780
Polymorphism: A/G, Transition substitution
Allele Nomenclature
Literature Links: CCDC103 PubMed Links

Gene Details

Gene: CCDC103
Gene Name: coiled-coil domain containing 103

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001258395.1	113	UTR 5			NP_001245324.1
NM_001258396.1	113	UTR 5			NP_001245325.1
NM_001258397.1	113	UTR 5			NP_001245326.1
NM_001258398.1	113	UTR 5			NP_001245327.1
NM_001258399.1	113	UTR 5			NP_001245328.1
NM_213607.2	113	UTR 5			NP_998772.1

Gene: EFTUD2
Gene Name: elongation factor Tu GTP binding domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142605.1	113	Intron			NP_001136077.1
NM_001258353.1	113	Intron			NP_001245282.1
NM_001258354.1	113	Intron			NP_001245283.1
NM_004247.3	113	Intron			NP_004238.3

Gene: GFAP
Gene Name: glial fibrillary acidic protein

There are no transcripts associated with this gene.

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