Product Details

SNP ID

rs199809614

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50662031 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCGGTGGCCCACCCTGGTCACACC[C/T]AGATCGACGTAGTCCTCCTTGGTCA

Phenotype

MIM: 604999 MIM: 600327

Polymorphism

C/T, 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	6439	Silent Mutation	CTA,CTG	L2140L	NP_057232.2
XM_006723233.3	6439	Silent Mutation	CTA,CTG	L2140L	XP_006723296.1
XM_011527013.2	6439	Silent Mutation	CTA,CTG	L2148L	XP_011525315.1
XM_011527014.2	6439	Silent Mutation	CTA,CTG	L2131L	XP_011525316.1

Gene

SYT3

Gene Name

synaptotagmin 3

There are no transcripts associated with this gene.

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