Product Details

SNP ID

rs117405516

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44906273 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTTCAGCATCTTCAAGAGGATGA[A/G]TCACTTCCTTAATTCCCACAATCCA

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

There are no transcripts associated with this gene.

Gene

EFTUD2

Gene Name

elongation factor Tu GTP binding domain containing 2

There are no transcripts associated with this gene.

Gene

GFAP

Gene Name

glial fibrillary acidic protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001131019.2	2510	Intron			NP_001124491.1
NM_001242376.1	2510	Intron			NP_001229305.1
NM_002055.4	2510	UTR 3			NP_002046.1
XM_017024451.1	2510	UTR 3			XP_016879940.1

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