Product Details

SNP ID

rs145388631

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:50662040 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCACCCTGGTCACACCTAGATCGAC[A/G]TAGTCCTCCTTGGTCAAGGCGGGCA

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	6430	Silent Mutation	TAC,TAT	Y2137Y	NP_057232.2
XM_006723233.3	6430	Silent Mutation	TAC,TAT	Y2137Y	XP_006723296.1
XM_011527013.2	6430	Silent Mutation	TAC,TAT	Y2145Y	XP_011525315.1
XM_011527014.2	6430	Silent Mutation	TAC,TAT	Y2128Y	XP_011525316.1

Gene

SYT3

Gene Name

synaptotagmin 3

There are no transcripts associated with this gene.

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