Product Details

SNP ID

rs78926405

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:109487689 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCCCTTCTAAAGAACCTCCTGGCAG[A/C]GAGAACATCGAGATCATCCCCAGTG

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

ATXN7L2 PubMed Links

Gene Details

Gene

ATXN7L2

Gene Name

ataxin 7 like 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153340.4	600	Missense Mutation	AGA,AGC	R195S	NP_699171.3
XM_005270445.3	600	Missense Mutation	AGA,AGC	R227S	XP_005270502.1
XM_005270446.2	600	Missense Mutation	AGA,AGC	R227S	XP_005270503.1
XM_011540638.2	600	Missense Mutation	AGA,AGC	R205S	XP_011538940.1
XM_011540639.2	600	Missense Mutation	AGA,AGC	R169S	XP_011538941.1
XM_011540641.2	600	Missense Mutation	AGA,AGC	R169S	XP_011538943.1
XM_011540644.2	600	Missense Mutation	AGA,AGC	R169S	XP_011538946.1
XM_011540645.1	600	Missense Mutation	GAG,GCG	E40A	XP_011538947.1
XM_011540646.2	600	Missense Mutation	AGA,AGC	R227S	XP_011538948.1
XM_017000267.1	600	Missense Mutation	AGA,AGC	R169S	XP_016855756.1
XM_017000268.1	600	Missense Mutation	AGA,AGC	R169S	XP_016855757.1
XM_017000269.1	600	Missense Mutation	AGA,AGC	R169S	XP_016855758.1
XM_017000270.1	600	Missense Mutation	AGA,AGC	R169S	XP_016855759.1

Gene

CYB561D1

Gene Name

cytochrome b561 family member D1

There are no transcripts associated with this gene.

Gene

SYPL2

Gene Name

synaptophysin like 2

There are no transcripts associated with this gene.

View Full Product Details