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See other ASPH GT Assays ›
SNP ID:
rs79877023
Gene
ASPH
Gene Name
Set Membership:
-
Chromosome Location:
Chr.8: 61668243 - 61668243 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

GAAAAAATGAAAATACCTTTAGCCT[C/T]AGTTTTTCTCTTGGCTACCCCACTG

Assay ID C_101154058_10
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 600582

Literature Links:

 ASPH PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
C (0.00)
(1.00)
Caucasian - Not Available CEPH (CEU) - Not Available
EAS
C (0.00)
(1.00)
African American - Not Available YRI (Yoruba) - Not Available
SAS
C (0.00)
(1.00)
Chinese - Not Available CHB (Han Chinese) - Not Available
AFR
C (0.00)
(1.00)
Japanese - Not Available JPT (Japanese) - Not Available
EUR
C (0.00)
(1.00)
AMR
C (0.00)
(1.00)
ASPH - aspartate beta-hydroxylase
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001164750.1 429 Intron NP_001158222.1
NM_001164751.1 429 Intron NP_001158223.1
NM_001164752.1 429 Intron NP_001158224.1
NM_001164753.1 429 Intron NP_001158225.1
NM_001164754.1 429 Intron NP_001158226.1
NM_001164755.1 429 Intron NP_001158227.1
NM_001164756.1 429 Intron NP_001158228.1
NM_004318.3 429 Intron NP_004309.2
NM_020164.4 429 Missense Mutation AAG,GAG K,E 105 NP_064549.1
NM_032466.3 429 Intron NP_115855.1
NM_032467.3 429 Missense Mutation AAG,GAG K,E 90 NP_115856.1
NM_032468.4 429 Intron NP_115857.1
XM_005251235.2 429 Intron XP_005251292.1
XM_005251236.2 429 Intron XP_005251293.1
XM_005251238.2 429 Intron XP_005251295.1
XM_005251239.2 429 Intron XP_005251296.1
XM_005251240.1 429 Intron XP_005251297.1
XM_005251242.2 429 Intron XP_005251299.1
XM_005251243.2 429 Intron XP_005251300.1
XM_005251244.1 429 Intron XP_005251301.1
XM_005251246.2 429 Intron XP_005251303.1
XM_005251247.2 429 Intron XP_005251304.1
XM_005251248.1 429 Intron XP_005251305.1
XM_005251250.2 429 Intron XP_005251307.1
XM_017013419.1 429 Intron XP_016868908.1
XM_017013420.1 429 Intron XP_016868909.1
XM_017013421.1 429 Intron XP_016868910.1
XM_017013422.1 429 Intron XP_016868911.1
XM_017013423.1 429 Intron XP_016868912.1
XM_017013424.1 429 Intron XP_016868913.1
XM_017013425.1 429 Intron XP_016868914.1
XM_017013426.1 429 Intron XP_016868915.1
XM_017013427.1 429 Intron XP_016868916.1
XM_017013428.1 429 Intron XP_016868917.1
XM_017013429.1 429 Intron XP_016868918.1
XM_017013430.1 429 Intron XP_016868919.1
XM_017013431.1 429 Intron XP_016868920.1
XM_017013432.1 429 Intron XP_016868921.1
XM_017013433.1 429 Intron XP_016868922.1
XM_017013434.1 429 Intron XP_016868923.1
XM_017013435.1 429 Intron XP_016868924.1
XM_017013436.1 429 Intron XP_016868925.1
XM_017013437.1 429 Intron XP_016868926.1
XM_017013438.1 429 Intron XP_016868927.1
XM_017013439.1 429 Intron XP_016868928.1
XM_017013440.1 429 Intron XP_016868929.1
XM_017013441.1 429 Intron XP_016868930.1
XM_017013442.1 429 Intron XP_016868931.1
XM_017013443.1 429 Intron XP_016868932.1
XM_017013444.1 429 Intron XP_016868933.1
XM_017013445.1 429 Intron XP_016868934.1
XM_017013446.1 429 Intron XP_016868935.1
XM_017013447.1 429 Intron XP_016868936.1

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