Product Details

SNP ID

rs150805271

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:67633028 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACTTGAAGTTCTCCTGGGCATAGC[A/G]CTCACTGTCCTTGCGTGGGTCCACG

Phenotype

MIM: 614413 MIM: 604648

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ACY3 PubMed Links

Gene Details

Gene

ACY3

Gene Name

aminoacylase 3

There are no transcripts associated with this gene.

Gene

NUDT8

Gene Name

nudix hydrolase 8

There are no transcripts associated with this gene.

Gene

TBX10

Gene Name

T-box 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005995.4	1003	Missense Mutation	CGC,TGC	R209C	NP_005986.2
XM_011544992.2	1003	Missense Mutation	CGC,TGC	R254C	XP_011543294.1
XM_011544993.1	1003	Missense Mutation	CGC,TGC	R48C	XP_011543295.1

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