Product Details

SNP ID

rs142536582

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:46645388 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCTTGGTGAAAAGATTTGCACTC[A/G]TTCATCATCTTCTCCAACGGGTTCA

Phenotype

MIM: 615088

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ATG13 PubMed Links

Gene Details

Gene

ATG13

Gene Name

autophagy related 13

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001142673.2	825	Missense Mutation	CAT,CGT	H40R	NP_001136145.1
NM_001205119.1	825	Missense Mutation	CAT,CGT	H40R	NP_001192048.1
NM_001205120.1	825	Missense Mutation	CAT,CGT	H40R	NP_001192049.1
NM_001205121.1	825	Missense Mutation	CAT,CGT	H40R	NP_001192050.1
NM_001205122.1	825	UTR 5			NP_001192051.1
NM_014741.4	825	Missense Mutation	CAT,CGT	H40R	NP_055556.2
XM_005253262.2	825	Missense Mutation	CAT,CGT	H40R	XP_005253319.1
XM_005253263.2	825	Missense Mutation	CAT,CGT	H40R	XP_005253320.1
XM_005253265.2	825	Missense Mutation	CAT,CGT	H40R	XP_005253322.1
XM_005253266.2	825	Missense Mutation	CAT,CGT	H40R	XP_005253323.1
XM_005253268.2	825	Missense Mutation	CAT,CGT	H40R	XP_005253325.1
XM_006718394.2	825	Missense Mutation	CAT,CGT	H40R	XP_006718457.1
XM_006718395.2	825	Missense Mutation	CAT,CGT	H40R	XP_006718458.1
XM_006718396.2	825	Missense Mutation	CAT,CGT	H40R	XP_006718459.1
XM_011520493.1	825	Missense Mutation	CAT,CGT	H40R	XP_011518795.1
XM_011520496.2	825	Missense Mutation	CAT,CGT	H40R	XP_011518798.1
XM_011520499.2	825	Missense Mutation	CAT,CGT	H40R	XP_011518801.1
XM_011520500.1	825	Missense Mutation	CAT,CGT	H40R	XP_011518802.1
XM_011520501.1	825	Missense Mutation	CAT,CGT	H40R	XP_011518803.1
XM_011520502.1	825	Missense Mutation	CAT,CGT	H40R	XP_011518804.1
XM_011520503.1	825	Missense Mutation	CAT,CGT	H40R	XP_011518805.1
XM_017018599.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874088.1
XM_017018600.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874089.1
XM_017018601.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874090.1
XM_017018602.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874091.1
XM_017018603.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874092.1
XM_017018604.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874093.1
XM_017018605.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874094.1
XM_017018606.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874095.1
XM_017018607.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874096.1
XM_017018608.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874097.1
XM_017018609.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874098.1
XM_017018610.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874099.1
XM_017018611.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874100.1
XM_017018612.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874101.1
XM_017018613.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874102.1
XM_017018614.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874103.1
XM_017018615.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874104.1
XM_017018616.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874105.1
XM_017018617.1	825	Missense Mutation	CAT,CGT	H40R	XP_016874106.1
XM_017018618.1	825	UTR 5			XP_016874107.1
XM_017018619.1	825	UTR 5			XP_016874108.1
XM_017018620.1	825	UTR 5			XP_016874109.1
XM_017018621.1	825	UTR 5			XP_016874110.1
XM_017018622.1	825	UTR 5			XP_016874111.1

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