Product Details

SNP ID

rs147232411

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50662223 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGCGAGAGCAGGCGGGTCGGTGA[A/G]AGGGAGCGCGAGGCCCCTGACAAGG

Phenotype

MIM: 604999 MIM: 600327

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

C19orf81 PubMed Links

Gene Details

Gene

C19orf81

Gene Name

chromosome 19 open reading frame 81

There are no transcripts associated with this gene.

Gene

SHANK1

Gene Name

SH3 and multiple ankyrin repeat domains 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_016148.3	6247	Silent Mutation	CTC,CTT	L2076L	NP_057232.2
XM_006723233.3	6247	Silent Mutation	CTC,CTT	L2076L	XP_006723296.1
XM_011527013.2	6247	Silent Mutation	CTC,CTT	L2084L	XP_011525315.1
XM_011527014.2	6247	Silent Mutation	CTC,CTT	L2067L	XP_011525316.1

Gene

SYT3

Gene Name

synaptotagmin 3

There are no transcripts associated with this gene.

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