Product Details

SNP ID

rs1128505

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:42609765 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGAGGGAAATCATCACCCTACAG[C/T]TGGGCCAGTGCGGCAATCAGAGTGA

Phenotype

MIM: 616498 MIM: 191135

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

FAM134C PubMed Links

Gene Details

Gene

FAM134C

Gene Name

family with sequence similarity 134 member C

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_178126.3	426	Intron			NP_835227.1
XM_011524440.2	426	Intron			XP_011522742.1

Gene

TUBG1

Gene Name

tubulin gamma 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001070.4	426	Silent Mutation	CTG,TTG	L10L	NP_001061.2

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